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Treatments available for congenital insensitivity to pain
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Congenital Insensitivity to Anhidrosis (or CIPA) is a rare genetic disease with the characteristics of not being able to feel any pain or temperature, and little or no sweating. It is inherited by an autosomal recessive pattern, meaning that both parents have a mutated NTRK1 gene, but they do not show any symptoms of CIPA. The damaged NTRK1gene produces proteins that cannot transmit signals. Since the neurons do not get any signals from the proteins, they perform apoptosis. Apoptosis is a process by which neurons self-destruct.
Without these sensory neurons, people with CIPA cannot feel any pain or temperature. They also lose the nerves by their sweat glands, which leads to anhidrosis – lessened or no sweating. The purpose of this paper is to inform you about what CIPA is, what support there is for those who have it, and what research is going on about it. I chose to write about CIPA because I thought it was interesting and wanted to know more about it.
Congenital Insensitivity to Pain with Anhidrosis is a genetic disorder that is inherited by an autosomal recessive pattern. This means that both parents have a damaged NTRK1 gene, and they pass it on to their offspring. They themselves do not show any sign of CIPA, but this combination of the damaged genes activates it for their children and mutates eleven genes, which can lead to diseases. Since the NTRK1 gene is supposed to produce proteins needed for neurons (nerve cells) to develop and survive, but is damaged, it makes proteins that don’t transmit the signals (usually about temperature, pain, and touch).
CIPA is a disorder that consists of not being able to feel pain or temperature. Those with CIPA also experience anhidrosis, the ability to only sweat a little, or not at all....
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...Orphanet Journal of Rare Diseases. BioMed Central Ltd. Web. 29 Jan. 2014. .
Inouye, Dane. "Congenital Insensitivity to Pain with Anhidrosis." Honohu 6.4 (2008): n. pag. University of Hawaiʻi at Hilo Campus Center. University of Hawaiʻi at Hilo, 2008. Web. 30 Jan. 2014. .
McKusick, Victor A. "OMIM Entry # 256800 - INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS; CIPA." Online Mendelian Inheritance in Man (OMIM). Ed. Cassandra L. Kniffin. John Hopkins University, 21 May 2009. Web. 30 Jan. 2014. .
NTRK1 Location on a Chromosome. N.d. Photograph. Genetics Home Reference. Genetics Home Reference, 27 Jan. 2014. Web. 29 Jan. 2014. .
Purpose- To identify the functions of the cranial nerve of the peripheral nervous system such as the olfactory, optic, oculomotor, trochlear, trigeminal, abducens, facial, vestibulocochlear, glossopharyngeal, vagus, accessory, and the hypoglossal nerves. I will examine these functions with a series of behavior tests on my partner who is Jazmine Cooley to see if all nerves are functioning properly and if they are not, then this will be considered an identified dysfunction of a cranial nerve which is a diagnosis.
Retrieved from http://www.ncbi.nlm.nih.gov/pubmed/22441230.
Throughout this semester, I have gained a abundance of information on genetics that I never knew, but reading the book "Mendel 's Dwarf" did make it a little bit more difficult for me to understand genetics. After looking back at my notes I remembered early in the semester our professor discussing the condition that Dr. Benedict Lambert suffers from which is Achondroplasia(dwarfism). Achondroplasia is condition of short limbs, usually in arms and legs, the torso and head size is majority of the time normal. Simon Mawer describe Dr. Lambert body as "His body is not normal, his is not normal, his limbs are not normal. He possesses a massive forehead and blunt, puglike features. His nose is stove in at the bridge, his mouth and jaw protrude. His
Peripheral and central mechanisms involving nerve lesions and their input are substantial when perceiving phantom pain. Due to the impairment of peripheral nerves in the process of amputation, regenerative sprouting of damaged axons occurs and the activity rate of inflamed C-fibres and demyelinated A-fibres spontaneously increases (Flor, 2002). As a consequence of this nerve injury, a neuroma, which is a mass of pruned and tangled axons, may form in the residual limb producing abnormal (ectopic) activity (Katz, 1992). Flor, Nikolajsen and Jenson (2006) proposed that ectopic discharge from a neuroma in the stump illustrates abnormal afferent input to the spinal cord, which is a possible mechanism for unpro...
... can be determined, then steps can be taken to effectively treat PLP. Person studying another animal communication system would find this research important and interesting as most animals have the similar neurobiology systems. Therefore, one can test to see if this theory is also true for their organism. If so, specific mechanism based treatments for PLP can be developed. One can also execute further research to explain the relationship between the different proposed mechanisms listed above. Their results can be used to develop a universal hypothesis explaining PLP; this will become essential in the future for the evolution of more specific mechanism-based treatment recommendations. These questions were chosen because my research aims to as they address the exact mechanism that causes PLP (neurobiology) and what method of treatment is best for the given mechanism.
The most common and well described pain transmission is “gate control theory of pain”. This theory was first proposed by Melzack and Wall in 1965 whereby they used the analogy of gate to explain the inhibition of pain which exists within the dorsal horn of the spinal cord. For instance, when tissue damage occurs, substances such as prostaglandin, serotonin, histamine and bradykinin are released from the injured cell. Individual usually consume or apply pain medications such as NSAIDs whereby these medications will cause electrical nerve impulse at the end of the sensory nerve fiber via nociceptor. Nociceptor is a pain receptor that is commonly found in the skin, cornea of eye and organ of motion such as muscles and ligaments. These nerve impulses
Angelman Syndrome is a genetic disorder that affects the nervous system. Angelman Syndrome, also known as AS, affects behavioral, cognitive, and developmental functions of children, but most symptoms are not seen till later in the child’s life (Williams et al.). In 1965, Harry Angelman, a British physician, studied 3 children with similar conditions. He noted many parallel features in these children. The original term for Angelman Syndrome was “Happy Puppet”, but in 1982 the term Happy Puppet became viewed as a demoralizing and was concluded that the conditions should be called Angelman Syndrome (Williams & Frias, 1982). It was first thought that Angelman Syndrome was nearly identical to Prader-Willi Syndrome (PWS), but as technology advanced researchers discovered that AS was a deletion of chromosome fifteen on the maternally derived chromosome and PWS was a deletion on the paternally derived chromosome fifteen (Knoll et al., 1990). Specifically, AS is a deletion or complication in the 15q11.2–15q13 region of the chromosome (Encyclopedia & Disorders, 2008).
Schepis, Carmelo, Donatella Greco, and Corrado Romano. "Cardiofaciocutaneous (CFC) Syndrome." Australasian Journal of Dermatology 40.2 (1999): 111-13. Print.
Brain’s Diseases of the Nervous System. 9th ed. Oxford University Press. Oxford: 1985.
Upon concluding my neurobiology course, I spent some time reflecting on what I've learned about the nervous system and its functions. I thought about how much progress has been made in the last couple of decades alone in defining and understanding certain aspects of neuronal functions, and must admit that I am very impressed. However, there is still so much we don't know about this area, and nowhere has this notion proved more true than in my exploration of Chronic Fatigue Syndrome. As will soon be clear, this disease is highly debilitating and can greatly lower the quality of an individual's life, yet to date there are no definite findings about the etiology of this illness. But even more importantly, this illness shows the importance of understanding and being able to assess the different workings of our nervous system and its complex nature. Unfortunately, the study of this same disease also shows the human inability to yet do so.
These patterns occur only with intense stimulation. Because strong and mild stimuli of the same sense modality produce different patterns of neural activity, being hit hard feels painful, but being caressed does not. It suggested that all cutaneous qualities are produced by spatial and temporal patterns of nerve impulses rather than by separate, modality specific transmission routes. Gate control theory of pain states that stimulation by non-noxious input is able to nullify pain.
Staats, P.S., Hekmat, H., & Staats, A.W. (2004). The psychological behaviorism theory of pain and the
This type of pain is classified as nociceptive pain or the normal pain process. It involves four processes that occur continuously: transduction, transmission, perception, and modulation. Neuropathic pain is not as easily understood because it involves damage and dysfunction of nerve cells in the peripheral nervous system (PNS) and/or the central nervous system (CNS) (Ignatavicius & Workman, 2016). Most patients describe neuropathic type pain as burning, stabbing, shooting, and/or a feeling pins and needles (Ignatavicius & Workman, 2016). This type of pain is hard to treat because of the subjective nature of pain and not all the causes of neuropathic pain are understood. This paper is a review of pharmacological and non-pharmacological management of neuropathic pain management. Three articles were found on this subject and summarized to inform its readers on recent research conducted within the last five years. The first article reviewed was a research study to determine strategies patient’s implemented in order to cope with
U.S. National Library of Medicine, 26 Sept. 2011. Web. The Web. The Web. 19 Nov. 2013.
Dangarembga, Tsitsi. Nervous Conditions. Ed. Holmes, Martha Stoddard. Oxfordshire: Ayebia Clarke Publishing Ltd, 2004. Print 1-208.