Zobrazeno 1 - 10
of 18
pro vyhledávání: '"Congenital analgesia"'
Autor:
L. S. Khamraeva, L. Yu. Bobokha
Publikováno v:
Российский офтальмологический журнал, Vol 10, Iss 1, Pp 85-89 (2018)
Congenital analgesia is characterized by insensitivity to pain. Children with this syndrome feel no physical pain when biting their tongues, lips, cheeks or fingers, which often results in significant bleeding. Burns and traumas leave numerous scars
Externí odkaz:
https://doaj.org/article/354780f53f134b6db1857015e23e70e2
Publikováno v:
Revista Salud Uninorte
Introducción: La insensibilidad congénita al dolor con anhidrosis (HSAN-IV o CIPA) es una enfermedad rara con sintomatología multisistémica, que impacta el funcionamiento cognitivo, afectando negativamente la calidad de vida los pacientes y sus f
Publikováno v:
Indian Journal of Pain, Vol 28, Iss 1, Pp 13-17 (2014)
Pain causes a reflex withdrawal from any stimuli that can cause actual or potential tissue damage. It is frequently an early symptom of a disease process and is often the impetus for a patient to seek medical treatment. In many disorders where pain a
Externí odkaz:
https://doaj.org/article/af1f86905a084abdbb2884fa3c05e933
Publikováno v:
Iranian Journal of Pediatrics
Background Background: Congenital insensitivity to pain with anhidrosis (CIPA) is characterized by recurrent episodes of infections and unexplained fever, anhidrosis (inability to sweat), and absence of reaction to noxious stimuli, self-mutilating be
Autor:
Adeline K Nicholas, Frank Reimann, Uffe Birk Jensen, Mary M. Reilly, Andreas C. Themistocleous, Rosemarie Watson, Patrick Willems, C. Geoffrey Woods, Claudia Stendel, Eberhard Passarge, Shinya Matsukawa, Ofélia P. Carvalho, G. Karbani, Michael S. Nahorski, Ya Chun Chen, Manuela Zitzelsberger, Marina Dusl, Enza Maria Valente, Carlos Martín Restrepo, Tatsuo Michiue, Yesim Parman, Caecilia Weiss, Sinéad M. Murphy, Adrian W. Moore, Regina Kropatsch, Chrysanthi Samara, Thomas Wieland, Maeve A. McAleer, Rolf Stucka, Ingo Kurth, Maria Schabhüttl, Bernd Rautenstrauss, Jonathan Baets, Peter De Jonghe, Roman Chrast, Istvan Katona, John McHugh, Lily T. Y. Cho, Carsten Bergmann, Christian Finke, Alan D. Irvine, Katja von Au, Jens Michael Hertz, Luitgard Graul-Neumann, Jan Senderek, Tim M. Strom, Annina B. Schmid, Diego Pereira, Fay Stafford, Manuela Baumgartner, Ute Moog, Joachim Weis, Wolfram Heinritz, Reinhard Windhager, Gareth T. Young, Maria Roberta Cilio, Samiha S. Shaikh, Michaela Auer-Grumbach, David L.H. Bennett
Publikováno v:
ResearcherID
Nature genetics 47(7), 803-808 (2015). doi:10.1038/ng.3308
Chen, Y C, Auer-Grumbach, M, Matsukawa, S, Zitzelsberger, M, Themistocleous, A C, Strom, T M, Samara, C, Moore, A W, Cho, L T Y, Young, G T, Weiss, C, Schabhüttl, M, Stucka, R, Schmid, A B, Parman, Y, Graul-Neumann, L, Heinritz, W, Passarge, E, Watson, R M, Hertz, J M, Moog, U, Baumgartner, M, Valente, E M, Pereira, D, Restrepo, C M, Katona, I, Dusl, M, Stendel, C, Wieland, T, Stafford, F, Reimann, F, Von Au, K, Finke, C, Willems, P J, Nahorski, M S, Shaikh, S S, Carvalho, O P, Nicholas, A K, Karbani, G, McAleer, M A, Cilio, M R, McHugh, J C, Murphy, S M, Irvine, A D, Jensen, U B, Windhager, R, Weis, J, Bergmann, C, Rautenstrauss, B & Baets, J 2015, ' Transcriptional regulator PRDM12 is essential for human pain perception ', Nature Genetics, vol. 47, no. 7, pp. 803-808 . https://doi.org/10.1038/ng.3308
Nature genetics
Repositorio EdocUR-U. Rosario
Universidad del Rosario
instacron:Universidad del Rosario
Nature genetics 47(7), 803-808 (2015). doi:10.1038/ng.3308
Chen, Y C, Auer-Grumbach, M, Matsukawa, S, Zitzelsberger, M, Themistocleous, A C, Strom, T M, Samara, C, Moore, A W, Cho, L T Y, Young, G T, Weiss, C, Schabhüttl, M, Stucka, R, Schmid, A B, Parman, Y, Graul-Neumann, L, Heinritz, W, Passarge, E, Watson, R M, Hertz, J M, Moog, U, Baumgartner, M, Valente, E M, Pereira, D, Restrepo, C M, Katona, I, Dusl, M, Stendel, C, Wieland, T, Stafford, F, Reimann, F, Von Au, K, Finke, C, Willems, P J, Nahorski, M S, Shaikh, S S, Carvalho, O P, Nicholas, A K, Karbani, G, McAleer, M A, Cilio, M R, McHugh, J C, Murphy, S M, Irvine, A D, Jensen, U B, Windhager, R, Weis, J, Bergmann, C, Rautenstrauss, B & Baets, J 2015, ' Transcriptional regulator PRDM12 is essential for human pain perception ', Nature Genetics, vol. 47, no. 7, pp. 803-808 . https://doi.org/10.1038/ng.3308
Nature genetics
Repositorio EdocUR-U. Rosario
Universidad del Rosario
instacron:Universidad del Rosario
Pain perception has evolved as a warning mechanism to alert organisms to tissue damage and dangerous environments. In humans, however, undesirable, excessive or chronic pain is a common and major societal burden for which available medical treatments
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b0cbb4d259627366e5cb9cef06a0fd90
https://www.scopus.com/inward/record.url?partnerID=HzOxMe3b&origin=inward&scp=84933279454
https://www.scopus.com/inward/record.url?partnerID=HzOxMe3b&origin=inward&scp=84933279454
Autor:
Jonathan Baets, Vincent Timmerman, Sara Sebnem Kilic, Bartu Sarisozen, Annelies Rotthier, Rifatcan Ozturk
Publikováno v:
Neurogenetics
Congenital insensitivity to pain with anhidrosis (CIPA) is an autosomal recessive disorder caused by mutations in the neurotrophic tyrosine receptor kinase 1 (NTRK1) gene, which encodes the receptor for nerve growth factor. We report the clinical cou
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ff065557f2cbce78fee0796f43527b2c
http://hdl.handle.net/11452/23108
http://hdl.handle.net/11452/23108
Autor:
Zámostná, Kateřina
Pain is defined as a physiological process associated with negative emotional experience which warns our body about impending damage. Apart from neuropathic pain, which by definition has no purpose, pain in effect provides a defensive function. Howev
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::562cb6d28046ceb914900fbbd5f823bd
http://www.nusl.cz/ntk/nusl-475245
http://www.nusl.cz/ntk/nusl-475245
Autor:
Joachim Weis, Annelies Rotthier, Jonathan Baets, Peter De Jonghe, Andrés Nascimento, Michaela Auer-Grumbach, Albena Jordanova, Marielle E M Swinkels, Nicolas Lévy, Els De Vriendt, Nathalie Bonello-Palot, Moyo C. Kruyt, Vincent Timmerman, An Jacobs, Sara Sebnem Kilic
Publikováno v:
Brain
Brain, 132, 2699-2711. Oxford University Press
Brain, 132, 2699-2711. Oxford University Press
Hereditary sensory and autonomic neuropathies (HSAN) are clinically and genetically heterogeneous disorders characterized by axonal atrophy and degeneration, exclusively or predominantly affecting the sensory and autonomic neurons. So far, disease-as
Publikováno v:
Indian Journal of Pain, Vol 28, Iss 1, Pp 13-17 (2014)
Pain causes a reflex withdrawal from any stimuli that can cause actual or potential tissue damage. It is frequently an early symptom of a disease process and is often the impetus for a patient to seek medical treatment. In many disorders where pain a
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