Extractions: 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.
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
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
Extractions: 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.
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
Extractions: 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. Translocation Genes Diseases Refs rearrangement NTRK1/TPM3 (TRK) Papillary Thyroid Carcinoma;
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
Extractions: 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
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.
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
Extractions: 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
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
Extractions: 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. 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.
Extractions: 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
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
Extractions: 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 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
Extractions: 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
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
Extractions: Please click here for erratum relating to this article 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
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
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
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
Extractions: 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 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
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
Extractions: 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.
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
Extractions: 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 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
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
