Complejo de esclerosis tuberosa

Autores:
Barboza Ubarnes, Miriam
Fortich González, Rossana
Gómez Kleebauer, Carlos
Tipo de recurso:
Article of journal
Fecha de publicación:
2020
Institución:
Universidad de Cartagena
Repositorio:
Repositorio Universidad de Cartagena
Idioma:
spa
OAI Identifier:
oai:repositorio.unicartagena.edu.co:11227/13230
Acceso en línea:
https://hdl.handle.net/11227/13230
https://doi.org/10.32997/rcb-2015-2967
Palabra clave:
Epilepsia
Esclerosis tuberosa
Tuberomas
Lesiones en piel.
Rights
openAccess
License
Revista Ciencias Biomédicas - 2020
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oai_identifier_str oai:repositorio.unicartagena.edu.co:11227/13230
network_acronym_str UCART2
network_name_str Repositorio Universidad de Cartagena
repository_id_str
dc.title.spa.fl_str_mv Complejo de esclerosis tuberosa
dc.title.translated.eng.fl_str_mv Complejo de esclerosis tuberosa
title Complejo de esclerosis tuberosa
spellingShingle Complejo de esclerosis tuberosa
Epilepsia
Esclerosis tuberosa
Tuberomas
Lesiones en piel.
title_short Complejo de esclerosis tuberosa
title_full Complejo de esclerosis tuberosa
title_fullStr Complejo de esclerosis tuberosa
title_full_unstemmed Complejo de esclerosis tuberosa
title_sort Complejo de esclerosis tuberosa
dc.creator.fl_str_mv Barboza Ubarnes, Miriam
Fortich González, Rossana
Gómez Kleebauer, Carlos
dc.contributor.author.spa.fl_str_mv Barboza Ubarnes, Miriam
Fortich González, Rossana
Gómez Kleebauer, Carlos
dc.subject.spa.fl_str_mv Epilepsia
Esclerosis tuberosa
Tuberomas
Lesiones en piel.
topic Epilepsia
Esclerosis tuberosa
Tuberomas
Lesiones en piel.
publishDate 2020
dc.date.accessioned.none.fl_str_mv 2020-11-24 00:00:00
dc.date.available.none.fl_str_mv 2020-11-24 00:00:00
dc.date.issued.none.fl_str_mv 2020-11-24
dc.type.spa.fl_str_mv Artículo de revista
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dc.type.local.eng.fl_str_mv Journal article
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dc.identifier.issn.none.fl_str_mv 2215-7840
dc.identifier.uri.none.fl_str_mv https://hdl.handle.net/11227/13230
dc.identifier.doi.none.fl_str_mv 10.32997/rcb-2015-2967
dc.identifier.eissn.none.fl_str_mv 2389-7252
dc.identifier.url.none.fl_str_mv https://doi.org/10.32997/rcb-2015-2967
identifier_str_mv 2215-7840
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url https://hdl.handle.net/11227/13230
https://doi.org/10.32997/rcb-2015-2967
dc.language.iso.spa.fl_str_mv spa
language spa
dc.relation.ispartofjournal.spa.fl_str_mv Revista Ciencias Biomédicas
dc.relation.bitstream.none.fl_str_mv https://revistas.unicartagena.edu.co/index.php/cbiomedicas/article/download/2967/2502
dc.relation.citationedition.spa.fl_str_mv Núm. 2 , Año 2015
dc.relation.citationendpage.none.fl_str_mv 375
dc.relation.citationissue.spa.fl_str_mv 2
dc.relation.citationstartpage.none.fl_str_mv 369
dc.relation.citationvolume.spa.fl_str_mv 6
dc.relation.references.spa.fl_str_mv Garcia-Penas JJ, Dominguez-Carral J, Pereira Bezanilla E. Alteraciones de la sinaptogénesis en el autismo. Implicaciones etiopatogenicas y terapéuticas. Rev Neurol 2012; 54 (Supl1): S41-50.
Weichhart T. Mammalian target of rapamycin: a signaling kinase for every aspect of celular life. Methods Mol Biol 2012: 821: 1-14.
Han JM, Sahin M. TSC1/TSC2 signaling in the CNS. FEBS lett 2011; 585: 973-80
Crino PB. mTOR: a pathogenic signaling pathway in developmental brain malformations. Trends Mol Med 2011; 17: 734-42.
Tomasoni R, Mondino A. The tuberous sclerosis complex;
Bourneville DM. Sclerosis Tubéreuse: mise au point ET actualités. Epilepsies 2009; 21: 34-40.
García-Peña J., Carreras-Sáez I. Autismo, epilepsia y esclerosis tuberosa: un modelo de conexión funcional a través de la via mTor. Tev Neurol 2013; 56 (Supl. 1): S153-S161).
Mozaffari M, Hoogeveen-Westerveld M, Kwiatkowski D, Sampson J, Ekong R, Povey S, et al. Identification of a region required for TSC1 stability by functional analysis of TSC1 missense mutations found in individuals with tuberous sclerosis complex. BMC Med Genet 2009: 10:88.
Napolioni V, Cuaratolo P. Genetics and molecular biology of tuberous sclerosis complex. Curr Genomics 2008:9:475-87
Osborne J, Merrifield J, O´Callaghan F. Tuberous sclerosis what´s new? Arch Dis Child, 2008:93; 728-31.
Curatolo P, Bombardieri R, Jozwiak S. Tuberous sclerosis. Lancet 2008; 372: 657-68.
Rakowski SK, Winterkorn EB, Paul E, Steele DJR, Halpern EF, Thiele E. Renal manifestation of tuberous sclerosis complex: incidence, prognosis, and predictive factor. Kidney Int 2006;70: 1777-82.
Au KS, Ward CH, Northrup H. Tuberous sclerosis complex: disease modifiers and treatments. Curr Opin Pediatr 2008;20: 628-33.
Orlova KA, Crino PB. The tuberous sclerosis complex. Ann N Y Acad Sci 2010; 1184: 87-105.
Devlin LA, Shepherd CH, Crawford H, Morrison PJ. Tuberous sclerosis complex: clinical features, diagnosis, and prevalence within Northern Ireland. Dev Med Child Neurol 2006; 48: 495-9.
Franz DN, Bissler JJ, McCormack FX. Tuberous sclerosis complex: neurological, renal and pulmonary manifestations. Neuropediatrics 2010; 41: 199-208.
Grajkowska W, Kotulska K, Jurkiewicz E, Matyja E. Brain lesions in tuberous sclerosis complex. Folia Neuropathol 2010; 48: 139-49.
Kalantari BN, Salamon N. Neuroimaging of tuberous sclerosis: spectrum of pathologic findings and frontiers in imaging. AJR Am J Roentgenol 2008; 190: 304-9.
Sparagana SP, Delgado MR, Batchelor LL, Roach ES. Seizure remission and antiepileptic drug discontinuation in children with tuberous sclerosis complex. Arch Neurol 2003; 60: 1286-9.
Vigevano F, Cilio MR. Vigabatrin versus ACTH as first-line treatment for infantile spasms: a randomized, prospective study. Epilepsia 1997; 38: 1270-4.
Parisi P, Bombardieri R, Curatolo P. Current role of vigabatrin in infantile spasms. Eur J Paediatr Neurol 2007; 11: 331-6.
García-Peñas JJ. Autismo, epilepsia y patología del lóbulo temporal. Rev Neurol 2009; 48 (Supl 2): S35-45.
Crino P, Nathason K, Petri E. The tuberous sclerosis complex. N Engl J Med. 2006;355:1345-56.
Wolff K, Goldsmith L, Katz S, Gilchrest BA, Paller AS, Leffell DJ. Fitzpatrick´s Dermatology in general medicine. Seventh edition. United States of America. McGraw-Hill; 2008. p. 1325-30.
Umeoka S, Koyama T, Miki Y, Akai M, Tsutsui K, Togashi K. Pictorial review of tuberous sclerosis in various organs. Radiographics. 2008;28:e32.
Franz DN, Brody A, Meyer C, Leonard J, Chuck G, Dabora S, et al. Mutational and radiographic analysis of pulmonary disease consistent with lymphangioleiomyomatosis and micronodular pneumocyte hyperplasia in women with tuberous sclerosis. Am J Respir Crit Care Med. 2001;164:661–8.
Popper HH, Juettner-Smolle FM, Pongratz MG. Micronodular hyperplasia of type II pneumocytes: a new lung lesion associated with tuberous sclerosis. Histopathology. 1991;18:347–54.
Crino PB and Henske EP. New developments in the neurobiology of the tuberous sclerosis complex. Neurology 1999; 53: 1384-90.
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spelling Barboza Ubarnes, MiriamFortich González, RossanaGómez Kleebauer, Carlos2020-11-24 00:00:002020-11-24 00:00:002020-11-242215-7840https://hdl.handle.net/11227/1323010.32997/rcb-2015-29672389-7252https://doi.org/10.32997/rcb-2015-2967application/pdfspaUniversidad de CartagenaRevista Ciencias Biomédicashttps://revistas.unicartagena.edu.co/index.php/cbiomedicas/article/download/2967/2502Núm. 2 , Año 201537523696Garcia-Penas JJ, Dominguez-Carral J, Pereira Bezanilla E. Alteraciones de la sinaptogénesis en el autismo. Implicaciones etiopatogenicas y terapéuticas. Rev Neurol 2012; 54 (Supl1): S41-50.Weichhart T. Mammalian target of rapamycin: a signaling kinase for every aspect of celular life. Methods Mol Biol 2012: 821: 1-14.Han JM, Sahin M. TSC1/TSC2 signaling in the CNS. FEBS lett 2011; 585: 973-80Crino PB. mTOR: a pathogenic signaling pathway in developmental brain malformations. Trends Mol Med 2011; 17: 734-42.Tomasoni R, Mondino A. The tuberous sclerosis complex;Bourneville DM. Sclerosis Tubéreuse: mise au point ET actualités. Epilepsies 2009; 21: 34-40.García-Peña J., Carreras-Sáez I. Autismo, epilepsia y esclerosis tuberosa: un modelo de conexión funcional a través de la via mTor. Tev Neurol 2013; 56 (Supl. 1): S153-S161).Mozaffari M, Hoogeveen-Westerveld M, Kwiatkowski D, Sampson J, Ekong R, Povey S, et al. Identification of a region required for TSC1 stability by functional analysis of TSC1 missense mutations found in individuals with tuberous sclerosis complex. BMC Med Genet 2009: 10:88.Napolioni V, Cuaratolo P. Genetics and molecular biology of tuberous sclerosis complex. Curr Genomics 2008:9:475-87Osborne J, Merrifield J, O´Callaghan F. Tuberous sclerosis what´s new? Arch Dis Child, 2008:93; 728-31.Curatolo P, Bombardieri R, Jozwiak S. Tuberous sclerosis. Lancet 2008; 372: 657-68.Rakowski SK, Winterkorn EB, Paul E, Steele DJR, Halpern EF, Thiele E. Renal manifestation of tuberous sclerosis complex: incidence, prognosis, and predictive factor. Kidney Int 2006;70: 1777-82.Au KS, Ward CH, Northrup H. Tuberous sclerosis complex: disease modifiers and treatments. Curr Opin Pediatr 2008;20: 628-33.Orlova KA, Crino PB. The tuberous sclerosis complex. Ann N Y Acad Sci 2010; 1184: 87-105.Devlin LA, Shepherd CH, Crawford H, Morrison PJ. Tuberous sclerosis complex: clinical features, diagnosis, and prevalence within Northern Ireland. Dev Med Child Neurol 2006; 48: 495-9.Franz DN, Bissler JJ, McCormack FX. Tuberous sclerosis complex: neurological, renal and pulmonary manifestations. Neuropediatrics 2010; 41: 199-208.Grajkowska W, Kotulska K, Jurkiewicz E, Matyja E. Brain lesions in tuberous sclerosis complex. Folia Neuropathol 2010; 48: 139-49.Kalantari BN, Salamon N. Neuroimaging of tuberous sclerosis: spectrum of pathologic findings and frontiers in imaging. AJR Am J Roentgenol 2008; 190: 304-9.Sparagana SP, Delgado MR, Batchelor LL, Roach ES. Seizure remission and antiepileptic drug discontinuation in children with tuberous sclerosis complex. Arch Neurol 2003; 60: 1286-9.Vigevano F, Cilio MR. Vigabatrin versus ACTH as first-line treatment for infantile spasms: a randomized, prospective study. Epilepsia 1997; 38: 1270-4.Parisi P, Bombardieri R, Curatolo P. Current role of vigabatrin in infantile spasms. Eur J Paediatr Neurol 2007; 11: 331-6.García-Peñas JJ. Autismo, epilepsia y patología del lóbulo temporal. Rev Neurol 2009; 48 (Supl 2): S35-45.Crino P, Nathason K, Petri E. The tuberous sclerosis complex. N Engl J Med. 2006;355:1345-56.Wolff K, Goldsmith L, Katz S, Gilchrest BA, Paller AS, Leffell DJ. Fitzpatrick´s Dermatology in general medicine. Seventh edition. United States of America. McGraw-Hill; 2008. p. 1325-30.Umeoka S, Koyama T, Miki Y, Akai M, Tsutsui K, Togashi K. Pictorial review of tuberous sclerosis in various organs. Radiographics. 2008;28:e32.Franz DN, Brody A, Meyer C, Leonard J, Chuck G, Dabora S, et al. Mutational and radiographic analysis of pulmonary disease consistent with lymphangioleiomyomatosis and micronodular pneumocyte hyperplasia in women with tuberous sclerosis. Am J Respir Crit Care Med. 2001;164:661–8.Popper HH, Juettner-Smolle FM, Pongratz MG. Micronodular hyperplasia of type II pneumocytes: a new lung lesion associated with tuberous sclerosis. Histopathology. 1991;18:347–54.Crino PB and Henske EP. New developments in the neurobiology of the tuberous sclerosis complex. Neurology 1999; 53: 1384-90.Revista Ciencias Biomédicas - 2020https://creativecommons.org/licenses/by-nc-sa/4.0/http://purl.org/coar/access_right/c_abf2info:eu-repo/semantics/openAccesshttps://revistas.unicartagena.edu.co/index.php/cbiomedicas/article/view/2967EpilepsiaEsclerosis tuberosaTuberomasLesiones en piel.Complejo de esclerosis tuberosaComplejo de esclerosis tuberosaArtículo de revistainfo:eu-repo/semantics/publishedVersionhttp://purl.org/coar/version/c_970fb48d4fbd8a85http://purl.org/coar/resource_type/c_6501http://purl.org/coar/resource_type/c_2df8fbb1Textinfo:eu-repo/semantics/articleJournal articlePublicationOREORE.xmltext/xml2436https://repositorio.unicartagena.edu.co/bitstreams/1c2262db-0ef0-426f-85ba-ebd2442303d2/download940fe68eb87056097b59ff8c033241ebMD5111227/13230oai:repositorio.unicartagena.edu.co:11227/132302024-09-05 15:30:36.749https://creativecommons.org/licenses/by-nc-sa/4.0/Revista Ciencias Biomédicas - 2020metadata.onlyhttps://repositorio.unicartagena.edu.coBiblioteca Digital Universidad de Cartagenabdigital@metabiblioteca.com

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