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Topic: Congenital insensitivity to pain with anhidrosis

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	McMaster Meducator » Issue 4 »
		This disease is known as Congenital Insensitivity to Pain with Anhidrosis, or CIPA (Theodorou et al., 2000).
		CIPA is an autosomal-recessive disorder characterized by recurrent episodic fevers, anhidrosis (inability to sweat), and absence of reaction to noxious or painful stimuli (Indo, 2002 & Guo et al., 2004).
		Indo, Y. Molecular basis of congenital insensitivity to pain with anhidrosis (CIPA): mutations and polymorphisms in TRKA (NTRK1) gene encoding the receptor tyrosine kinase for nerve growth factor.
	www.meducator.org /archive/20050406/06_cipa.html (1183 words)

	Congenital insensitivity to pain with anhidrosis (CIPA): novel mutations of the TRKA ( NTRK1) gene, a putative ...
		Congenital insensitivity to pain with anhidrosis (CIPA): novel mutations of the TRKA (NTRK1) gene, a putative uniparental disomy, and a linkage of the mutant TRKA and PKLR genes in a family with CIPA and pyruvate kinase deficiency.
		Congenital insensitivity to pain with anhidrosis (CIPA): novel mutations of the TRKA (NTRK1) gene, a putative uniparental disomy, and a linkage of the mutant TRKA and PKLR genes in a family with CIPA and pyruvate kinase deficiency.This will aid in diagnosis and genetic counseling of this painless but severe genetic disorder.
		Congenital insensitivity to pain with anhidrosis is an autosomal recessive hereditary disorder characterized by recurrent episodic fever, anhidrosis (inability to sweat), absence of reaction to noxious stimuli, self-mutilating behavior, and mental retardation.
	www.ihop-net.org /UniPub/iHOP/gp/8875409.html (356 words)

	Human protein: P04629 - High affinity nerve growth factor receptor precursor (EC ) (Neurotrophic tyrosine kinase ...
		Congenital insensitivity to pain with anhidrosis: novel mutations in the TRKA (NTRK1) gene encoding a high-affinity receptor for nerve growth factor.
		The Gly571Arg mutation, associated with the autonomic and sensory disorder congenital insensitivity to pain with anhidrosis, causes the inactivation of the NTRK1/nerve growth factor receptor.
		CIPA is characterized by a congenital insensitivity to pain, anhidrosis (absence of sweating), absence of reaction to noxious stimuli, self-mutilating behavior, and mental retardation.
	harvester.embl.de /harvester/P046/P04629.htm (2186 words)

	CIPA
		Congenital Insensitivity to Pain with Anhidrosis (lack of sweating) is a rare autosomal-recessive disorder usually manifested in childhood by a history of unrecognized trauma, indifference to pain stimuli or self-mutilation.
		Patients diagnosed with congenital insensitivity to pain with anhidrosis (CIPA) suffer from abnormal pain and temperature perception, absence of sweating (anhidrosis), mental retardation, fever during hot weather and loss of unmyelinated fibers with a decrease in size of small myelinated fibers.
		Body temperature is disturbed as a result of the inability to sweat and insensitivity to pain may lead to bone fracture, multiple scars, osteomyelitis, and joint deformities, which may lead to limb amputation, painless injuries of arms, legs and oral structures.
	helium.vancouver.wsu.edu /~woodc/CIPA.html (1022 words)

	Novel Pathogenic Mechanisms of Congenital Insensitivity to Pain with Anhidrosis Genetic Disorder Unveiled by Functional ...
		Congenital insensitivity to pain with anhidrosis (CIPA) is a rare genetic disease characterized by absence of reaction to
		CIPA is the consequence of a genetic defect in the differentiation
		CIPA mutations, the R774P and the G571R, inactivate the NTRK1
	www.jbc.org /cgi/content/full/277/8/6455 (4887 words)

	Congenital Insensitivity to Pain with Anhidrosis
		Congenital Insensitivity to Pain with Anhidrosis (CIPA) is a rare disease which causes one to lose their feeling of pain.
		CIPA is a disease that is very new and that very few people have.
		So far, CIPA is defined as an autosomal-recessive disorder ((2)) which is a developmental defect (not necessarily hereditary) ((3)) that usually is caused by a history of some kind of trauma.
	serendip.brynmawr.edu /bb/neuro/neuro05/web1/ssniezek.html (1112 words)

	CONGENITAL INSENSITIVITY/INDIFFERENCE TO PAIN: Contact a Family - for families with disabled children: ...
		In Congenital Insensitivity to Pain, there are structural abnormalities in peripheral nerves which are the peripheral pathways carrying electrical impulses from pain sensitive nerve endings in both superficial and deep tissues.
		In Congenital Indifference to Pain, the peripheral nerves are intact and the defect is apparently in the central structures such as the thalamus where painful impulses are normally interpreted.
		Congenital Insensitivity to Pain (of which types I to IV are generally accepted, with some other very rare conditions) is usually classified under the more general heading of Hereditary and Sensory Autonomic Neuropathy (HSAN).
	www.cafamily.org.uk /Direct/c645.html (1147 words)

	ABC News: Does Pain Serve a Purpose?
		Pain was portrayed as a critical part of the monk's path to spiritual and personal growth.
		While many would consider a life without pain as a blessing, it is anything but that for those who suffer from a rare disorder that leaves them unable to feel pain.
		Most people are not disabled by nociceptic pain, which is pain caused by injury or trauma to the body's tissues, but rather by chronic pain, Covington said.
	www.abcnews.go.com /Health/PainManagement/story?id=741257&page=1 (399 words)

	Hereditary Sensory and Autonomic Neuropathy (HSAN) Pediatric Oncall (Site not responding. Last check: 2007-10-08)
		On CNS system examination, her motor system was normal and she had absent pain sensation on sensory system examination.
		Pain sensation is affected predominantly and deep tendon reflexes are reduced.
		It is an autosomal recessive condition and affected infants present with episodes of hyperthermia unrelated to environmental temperature, anhidrosis and insensitivity to pain.
	www.pediatriconcall.com /fordoctor/casereports/hsan.asp (677 words)

	GeneDx :: Genetic Testing and Diagnosis Company
		Congenital insensitivity to pain with anhidrosis is a rare type of hereditary sensory and autonomic neuropathy (HSAN type IV).
		Characteristic features are indifference to painful stimuli and self-mutilating behavior, anhidrosis (inability to sweat), corneal ulcers, and sometimes mental retardation.
		In CIPA, mutations of NTRK1 are identified by complete sequence analysis of the entire coding region of the gene (17 exons).
	www.genedx.com /services/dis_cip.php (204 words)

	GeneCard for NTRK1 (Site not responding. Last check: 2007-10-08)
		CIPA is characterized by a congenital insensitivity to pain, anhidrosis (absence of
		Congenital insensitivity to pain with anhidrosis (CIPA) in Israeli-Bedouins: genetic heterogeneity, novel mutations in the TRKA/NGF receptor gene, clinical findings, and results of nerve conduction studies.
		Genetics of congenital insensitivity to pain with anhidrosis (CIPA) or hereditary sensory and autonomic neuropathy type IV.
	bioinfo.cnio.es /cgi-bin/genecards/carddisp?NTRK1&pubmed=39 (1378 words)

	Pain is There for a Reason
		Congenital insensitivity to pain with anhidrosis (CIPA) is so rare that a clinic specializing in the disorder has only 35 patients – only 17 of them from the United States.
		CIPA is caused by a genetic mutation that obstructs development of the nerves that transmit sensations of pain, heat, and cold to the brain.
		Pain is bad, and a loving God would eliminate all pain.
	www.gracecentered.com /reason_for_pain.htm (447 words)

	Anesthesia for Patients with Congenital Insensitivity to Pain and Anhidrosis: A Questionnaire Study in Japan -- Tomioka ...
		Anesthesia for Patients with Congenital Insensitivity to Pain and Anhidrosis: A Questionnaire Study in Japan -- Tomioka et al.
		Anesthesia for Patients with Congenital Insensitivity to Pain and Anhidrosis: A Questionnaire Study in Japan
		of patients with congenital insensitivity to pain and anhidrosis.
	www.anesthesia-analgesia.org /cgi/content/abstract/94/2/271 (259 words)

	Boston.com / News / Nation / Girl with rare disease doesn't know pain (Site not responding. Last check: 2007-10-08)
		Ashlyn is among a tiny number of people in the world known to have congenital insensitivity to pain with anhidrosis, or CIPA -- a rare genetic disorder that makes her unable to feel pain.
		That's because the genetic mutation that causes CIPA only disrupts the development of the small nerve fibers that carry sensations of pain, heat and cold to the brain.
		They heard of a case where a child with CIPA had appendicitis that went untreated until her appendix burst.
	www.boston.com /news/nation/articles/2004/11/01/girl_with_rare_disease_doesnt_know_pain (828 words)

	Congenital insensitivity to pain with anhidrosis - One Language (Site not responding. Last check: 2007-10-08)
		Congenital insensitivity to pain with anhidrosis - One Language
		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.
		Patients with this disorder are very likely to injure themselves in ways that would normally be prevented by feeling pain.
	www.onelang.com /encyclopedia/index.php/CIPA (160 words)

	Congenital insensitivity of pain with anhidrosis.,Gupta B: Indian Journal of Pediatrics
		Congenital insensitivity of pain with anhidrosis.,Gupta B: Indian Journal of Pediatrics
		Congenital insensitivity to pain with anhidrosis is an autosomal recessive disorder included in a group of rare diseases termed as hereditary sensory-motor neuropathies.
		This case report points to the question that should assessment of pain sensation be a part of routine examination of newborn.
	www.ijppediatricsindia.org /article.asp?issn=0019-5456;year=2003;volume=70;issue=1;spage=109;epage=11;aulast=Gupta;type=0 (166 words)

	Blogger: Email Post to a Friend (Site not responding. Last check: 2007-10-08)
		But pain is like a smoke detector, a burglar alarm, an early warning system.
		Seeking to avoid pain is like disabling your smoke detector because you're afraid of fire.
		But it does mean that when we feel pain -- be it physical or emotional -- we should recognize it as an important warning that some part of us is being threatened....
	www.blogger.com /email-post.g?blogID=7999897&postID=109932937854560480 (234 words)

	BioBeat Online Magazine
		NGFB gene and gave rise to a phenotype associated with pain insensitivity and impaired temperature sensitivity, but with other neurological functions seemingly intact, the researchers believed that, clinically, the existing disease profile that the mutation best fit was that for the fifth HSAN syndrome—namely, HSAN V.
		The authors hypothesized that the NGFB mutation may cause the pain insensitivity syndrome by one of two mechanisms—either by affecting the binding of NGF to TRKA (the high-affinity NGF receptor) or, alternatively, by affecting the binding of NGF to p75(NTR) (the low-affinity NGF receptor), and perhaps thus inhibiting p75-promoted NGF activities.
		Indo, Y., “Molecular Basis of Congenital Insensitivity to Pain with Anhidrosis (CIPA): Mutations and Polymorphisms in TRKA (NTRK1) Gene Encoding the Receptor Tyrosine Kinase for Nerve Growth Factor,” Human Mutation 18(6): 462-471 (December 2001).
	www.appliedbiosystems.com /biobeat/index.jsp?articleId=321fe625-bb3e-1999-4d8e4e6ea3d9fe4b&type=0 (1625 words)

	An Infant With Primary Tooth Loss and Palmar Hyperkeratosis: A Novel Mutation in the NTRK1 Gene Causing Congenital ...
		CIPA is caused by mutations in the neurotrophic
		Novel pathogenic mechanisms of congenital insensitivity to pain with anhidrosis genetic disorder unveiled by functional analysis of neurotrophic tyrosine receptor kinase type 1/nerve growth factor receptor mutations.
		Multisystem involvement in congenital insensitivity to pain with anhidrosis (CIPA), a nerve growth factor receptor (TrkA) related disorder.
	pediatrics.aappublications.org /cgi/content/full/112/3/e237 (2949 words)

	A mutation in the nerve growth factor beta gene (NGFB) causes loss of pain perception -- Einarsdottir et al. 13 (8): ...
		of the mutation responsible for pain insensitivity in this northern
		Pedigree of the family with loss of pain perception, showing a common haplotype on chromosome 1p11.2–p13.2 for which the affected individuals, number 4, 8 and 11, are homozygous.
		Indo, Y. (2001) Molecular basis of congenital insensitivity to pain with anhidrosis (CIPA): mutations and polymorphisms in TRKA (NTRK1) gene encoding the receptor tyrosine kinase for nerve growth factor.
	hmg.oxfordjournals.org /cgi/content/full/13/8/799 (3388 words)

	Indian Pediatrics - Editorial
		There is anhidrosis due to lack of innervation of normal sweat glands resulting in recurrent episodes of hyperpyrexia.
		HSAN type IV inherited as an autosomal recessive trait, is characterized by recurrent episodes of unexplained fever, failure to thrive, absence or decreased perspiration (despite normal sweat glands), insensitivity to pain, self mutilation and mental retardation(2).
		Congenital insensitivity to pain (hereditary sensory and autonomic neuropathy).
	www.indianpediatrics.net /mar2005/mar-281-284.htm (1333 words)

	The Hindu : International : The pain of living without pain
		Ashlyn is among a minuscule number of people in the world known to have congenital insensitivity to pain with anhidrosis, or CIPA — a rare genetic disorder that makes her unable to feel pain.
		That is because the genetic mutation that causes CIPA only disrupts the development of the small nerve fibres that carry sensations of pain, heat and cold to the brain.
		As the director of a treatment centre that specialises in CIPA and related disorders, she has 35 patients with the disease on file.
	www.hindu.com /2004/11/02/stories/2004110201772000.htm (791 words)

	The Other HSAN's
		With the exception of hereditary sensory radicular neuropathy (HSAN type I), which presents in the second decade and is transmitted as a dominant disorder, the other HSAN appear to be present at birth and are transmitted as autosomal recessive disorders.
		The other two HSAN with specific genetic mutations are familial dysautonomia (FD or HSAN type III) and congenital insensitivity to pain with anhidrosis (CIPA or HSAN type IV).
		For CIPA, because there are a number of described mutations, commercial molecular genetic diagnostic testing is not yet feasible.
	www.med.nyu.edu /fd/hsan.html (727 words)

	ABC News: Girl Struggles With Lack of Physical Pain
		But that feeling is foreign to Ashlyn, who suffers from what's called congenital insensitivity to pain with anhidrosis, also known as CIPA, a rare genetic disorder affecting the nerve endings.
		At least 100 people worldwide are known to have CIPA and repeatedly suffer severe injuries, burns, cuts and fractures.
		Family photos of Ashlyn reveal a swollen lip occurring after she mistakenly bit it, and a burned hand stemming from an appliance she did not know was extremely hot.
	abcnews.go.com /GMA/story?id=244391&page=1 (382 words)

	PopMatters Film Feature \| South by Southwest Film 2005: A Field Journal
		CIPA essentially turns these otherwise normal kids into their own worst enemies.
		As a consequence, their parents must assume a kind of manic vigilance to maintain their children's well being, while fending off allegations of abuse from outsiders who find it impossible to believe that the youngsters are inflicting such damage on themselves.
		A Life Without Pain, then, is an important tool in spreading awareness of this disorder, acting as a kind of cinematic advocate for the victims and their families.
	www.popmatters.com /film/features/050316-sxswfilm.shtml (1295 words)

	Interventional pain management
		This study was done to review and describe the care of paediatric trauma patients with respect to pain assessment and medication administration...Conclusions: As a group, our paediatric trauma resuscitation team did a much better job managing pain, in this segment of the population, than the preponderance of existing literature would predict...
		Spontaneous pain is a common complaint in chronic pain conditions.
		The levels of dopamine and its major metabolites in the nucleus accumbens were markedly increased by the microinjection of orexin A and orexin B into the VTA...
	mdlynx.com /EmergencyMDLinx/index.cfm?subspec_id=466&bt=todaysnews (745 words)

	::: EJO ::: (Site not responding. Last check: 2007-10-08)
		Indolent corneal ulcers in a patient with congenital insensitivity to pain with anhidrosis: A case report and literature review
		To report a case of bilateral corneal neurotrophic ulcer in patient with congenital insensitivity to pain with anhidrosis (CIPA) and review the literature.
		Congenital insensitivity to pain with anhidrosis may present as neurotrophic corneal ulcer.
	www.eur-j-ophthalmol.com /ejo/index.asp?a=abstract&id=AC5A7452-7B89-11D6-9FAD-006097F (190 words)

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