المؤلفون: López, Silvina Ferreiro, Loureiro, Licet Alvarez, Salveraglio, Inés, Gugelmeier, Virginia, Figueiredo, Márcia Cançado

مصطلحات موضوعية: Enfermedad nerviosa de Recklinghausen, Cavidad bucal, Niño, Mantenimiento del espacio, Prótesis dental, Neurofibromatose 1, Boca, Criança, Prótese dentária, Estética, Recklinghausen´s disease of the nervous system, Mouth, Child, Maintenance of space, Aesthetics, Dental prosthesis

وصف الملف: application/pdf

العلاقة: Odontoestomatología. Montevideo. Vol. 24 (2022), 13 p.; http://hdl.handle.net/10183/242533Test; 001139153

الإتاحة: http://hdl.handle.net/10183/242533Test

المؤلفون: López, Silvina Ferreiro, Loureiro, Licet Alvarez, Salveraglio, Inés, Gugelmeier, Virginia, Figueiredo, Márcia Cançado

المصدر: Repositório Institucional da UFRGS
Universidade Federal do Rio Grande do Sul (UFRGS)
instacron:UFRGS

مصطلحات موضوعية: Mouth, Enfermedad nerviosa de Recklinghausen, Dental prosthesis, Maintenance of space, Boca, Neurofibromatose 1, Aesthetics, Criança, Prótesis dental, Prótese dentária, Estética, Niño, Child, Cavidad bucal, Recklinghausen´s disease of the nervous system, Mantenimiento del espacio

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=od______3056::5d33d007d6b42632999dc1c26c1c66b6Test

المؤلفون: Cunha, Karin Soares Gonçalves, Barboza, Eliane Porto, Fonseca, Eliene Carvalho da

المصدر: Clinics. January 2008 63(1)

مصطلحات موضوعية: Von Recklinghausen´s disease, Immunohistochemistry, Puberty

الوصف: OBJECTIVE: The aim of this study was to investigate the presence of growth hormone receptor in plexiform neurofibromas of neurofibromatosis type 1 patients. INTRODUCTION: The development of multiple neurofibromas is one of the major features of neurofibromatosis type 1. Since neurofibromas commonly grow during periods of hormonal change, especially during puberty and pregnancy, it has been suggested that hormones may influence neurofibromatosis type 1 neurofibromas. A recent study showed that the majority of localized neurofibromas from neurofibromatosis type 1 patients have growth hormone receptor. METHODS: Growth hormone receptor expression was investigated in 5 plexiform neurofibromas using immunohistochemistry. RESULTS: Four of the 5 plexiform neurofibromas were immunopositive for growth hormone receptor. CONCLUSION: This study suggests that growth hormone may influence the development of plexiform neurofibromas in patients with neurofibromatosis type 1.

وصف الملف: text/html

الوصول الحر: http://old.scielo.br/scielo.php?script=sci_arttext&pid=S1807-59322008000100008Test

المؤلفون: Felipe Nasser, Breno Boueri Affonso, Charles Edouard Zurstrassen, Wilson de Oliveira Sousa Junior, Joaquim Mauricio da Motta Leal Filho, Fabio Yamada, Paulo Henrique Petterle, Francisco Cesar Carnevale

المصدر: Jornal Vascular Brasileiro, Vol 7, Iss 4, Pp 389-392 (2008)

مصطلحات موضوعية: Hematoma, doença de Von Recklinghausen, artéria, embolização terapêutica, von Recklinghausen"s disease, artery, therapeutic embolization, Surgery, RD1-811, Diseases of the circulatory (Cardiovascular) system, RC666-701

الوصف: Os sangramentos no retroperitônio são, em sua grande maioria, secundários a eventos traumáticos envolvendo grande energia cinética, com poucos relatos na literatura caracterizados como espontâneos. No presente relato, descrevemos paciente gestante, portadora de doença de Von Recklinghausen e com volumoso hematoma retroperitoneal diagnosticado durante o parto cesariano, secundário a ruptura espontânea de artéria lombar. A doença de Von Recklinghausen apresenta manifestações vasculares bem descritas, caracterizando-se principalmente por estenoses que são secundárias a tumores intramurais (proliferação das células de Schwann) e raramente dilatações aneurismáticas, assintomáticas em sua maioria. No presente caso, foi realizada a aortografia com cateterização seletiva e embolização da artéria sangrante com sucesso.Retroperitoneal bleeding is mainly due to traumatic events with a high amount of kinetic energy, with few reported cases of spontaneous events in the literature. We report on a case of a pregnant woman with Von Recklinghausen"s disease and bulky retroperitoneal hematoma diagnosed during cesarean delivery secondary to spontaneous lumbar artery rupture. Von Recklinghausen"s disease has well-described vascular manifestations, mainly characterized by stenoses related to intramural tumors (Schwann cell proliferation) and rarely asymptomatic aneurysmal dilatations. In this case, aortography was performed with successful selective catheterization and embolization of the bleeding artery.

وصف الملف: electronic resource

العلاقة: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1677-54492008000400016Test; https://doaj.org/toc/1677-5449Test; https://doaj.org/toc/1677-7301Test

الوصول الحر: https://doaj.org/article/fd5e3579f9a94f7fb54e85e4498dfc7cTest

المؤلفون: Karin Soares Gonçalves Cunha, Eliane Porto Barboza, Eliene Carvalho da Fonseca

المصدر: Clinics, Vol 63, Iss 1, Pp 39-42 (2008)

مصطلحات موضوعية: Von Recklinghausen´s disease, Immunohistochemistry, Puberty, Medicine (General), R5-920

الوصف: OBJECTIVE: The aim of this study was to investigate the presence of growth hormone receptor in plexiform neurofibromas of neurofibromatosis type 1 patients. INTRODUCTION: The development of multiple neurofibromas is one of the major features of neurofibromatosis type 1. Since neurofibromas commonly grow during periods of hormonal change, especially during puberty and pregnancy, it has been suggested that hormones may influence neurofibromatosis type 1 neurofibromas. A recent study showed that the majority of localized neurofibromas from neurofibromatosis type 1 patients have growth hormone receptor. METHODS: Growth hormone receptor expression was investigated in 5 plexiform neurofibromas using immunohistochemistry. RESULTS: Four of the 5 plexiform neurofibromas were immunopositive for growth hormone receptor. CONCLUSION: This study suggests that growth hormone may influence the development of plexiform neurofibromas in patients with neurofibromatosis type 1.

وصف الملف: electronic resource

العلاقة: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1807-59322008000100008Test; https://doaj.org/toc/1807-5932Test; https://doaj.org/toc/1980-5322Test

الوصول الحر: https://doaj.org/article/741f1fd3f81b4f3e8ff7ee350376a0b4Test

المؤلفون: Hideyuki OHNISHI, Kenta FUJIMOTO, Kiyoshi NAGATA, Masayuki FUJIOKA, Shinichiroh KUROKAWA, Takashi YUASA, Yuhki IDA, Yuji NIKAIDOH

المصدر: Neurologia medico-chirurgica. 1993, 33(9):651

المؤلفون: Cunha, Karin Soares Gonçalves, Gelle, Mauro, Moura Neto, Rodrigo Soares de, Lopes, Vânia Silami

المصدر: Journal of Medical and Biological Sciences; Vol. 6 No. 3 (2007): Revista de Ciências Médicas e Biológicas; 338-348 ; Revista de Ciências Médicas e Biológicas; v. 6 n. 3 (2007): Revista de Ciências Médicas e Biológicas; 338-348 ; 2236-5222 ; 1677-5090

مصطلحات موضوعية: Doença de von Recklinghausen, Neurofibromatose tipo 1- Genética, Gene NF1, Von Recklinghausen´s disease, Neurofibromatosis type 1- Genetics, NF1 gene

الوصف: Neurofibromatosis type 1 (NF1), also known as von Recklinghausen´s disease, is the most common form of Neurofibromatosis and account for 90% of all cases. The presence of multiple neurofibromas is one of the main clinical manifestations of NF1. Other clinical characteristics include: café au lait spots, inguinal and axillary ephelides and Lisch nodules. NF1 is an autosomal dominant disorder with a complete penetrance and extreme clinical variability, even in intrafamilial cases. The gene complexity and the diversity of mutations in NF1 gene make the genotype-phenotype correlations very difficult. Although many different mutations have been described, information about genotype-phenotype correlations are still limited. Until now, the only well established genotype-phenotype correlation, reported in many studies, is the association of large deletions (~1.5 mb), involving NF1 gene and contiguous DNA, leading to a more severe phenotype. The aim of this study is to review the literature about the current knowledge of genetic alterations in NF1. ; A Neurofibromatose tipo 1 (NF1), também conhecida como Doença de von Recklinghausen, é a forma mais freqüente da Neurofibroatose, correspondendo a 90% de todos os casos. A presença de múltiplos neurofibromas constitui uma das principais manifestações clínicas da NF1. Outras características clínicas freqüentemente observadas na NF1 são: manchas café-com-leite, efélides inguinais e axilares e nódulos de Lisch. A NF1 é uma doença autossômica dominante, completamente penetrante e com marcante variabilidade, mesmo nos casos intrafamiliares. A complexidade e a diversidade das mutações do gene NF1 fazem as correlações genótipo-fenótipo muito difíceis. Embora várias mutações diferentes já tenham sido relatadas, ainda são limitadas as informações sobre a correlação genótipo-fenótipo nos pacientes com NF1. Até o momento, a única correlação genótipo-fenótipo que está bem estabelecida e já foi relatada em vários estudos é a associação de grandes deleções (~1,5 mb), envolvendo o gene NF1 ...

وصف الملف: application/pdf

العلاقة: https://periodicos.ufba.br/index.php/cmbio/article/view/4396/3224Test; https://periodicos.ufba.br/index.php/cmbio/article/view/4396Test

الإتاحة: https://doi.org/10.9771/cmbio.v6i3.4396Test
https://periodicos.ufba.br/index.php/cmbio/article/view/4396Test

المؤلفون: Paštar, Zrinjka, Lipozenčić, Jasna, Budimčić, Dragomir, Tomljanović-Veselski, Mirna

المصدر: Acta Dermatovenerologica Croatica (jasna.lipozencic@zg.htnet.hr); Vol.14 No.3

مصطلحات موضوعية: neurofibroma, neurofibromatosis, Recklinghausen´s disease, central neurofibromatosis

وصف الملف: PDF

العلاقة: http://hrcak.srce.hr/88671Test; http://hrcak.srce.hr/file/131582Test

الإتاحة: http://hrcak.srce.hr/88671Test
http://hrcak.srce.hr/file/131582Test

المؤلفون: Nasser, Felipe, Affonso, Breno Boueri, Zurstrassen, Charles Edouard, Sousa Junior, Wilson de Oliveira, Leal Filho, Joaquim Mauricio da Motta, Yamada, Fabio, Petterle, Paulo Henrique, Carnevale, Francisco Cesar

المصدر: Jornal Vascular Brasileiro, Volume: 7, Issue: 4, Pages: 389-392, Published: DEC 2008

مصطلحات موضوعية: Hematoma, doença de Von Recklinghausen, artery, therapeutic embolization, von Recklinghausen"s disease, artéria, embolização terapêutica

الوصف: Os sangramentos no retroperitônio são, em sua grande maioria, secundários a eventos traumáticos envolvendo grande energia cinética, com poucos relatos na literatura caracterizados como espontâneos. No presente relato, descrevemos paciente gestante, portadora de doença de Von Recklinghausen e com volumoso hematoma retroperitoneal diagnosticado durante o parto cesariano, secundário a ruptura espontânea de artéria lombar. A doença de Von Recklinghausen apresenta manifestações vasculares bem descritas, caracterizando-se principalmente por estenoses que são secundárias a tumores intramurais (proliferação das células de Schwann) e raramente dilatações aneurismáticas, assintomáticas em sua maioria. No presente caso, foi realizada a aortografia com cateterização seletiva e embolização da artéria sangrante com sucesso. Retroperitoneal bleeding is mainly due to traumatic events with a high amount of kinetic energy, with few reported cases of spontaneous events in the literature. We report on a case of a pregnant woman with Von Recklinghausen"s disease and bulky retroperitoneal hematoma diagnosed during cesarean delivery secondary to spontaneous lumbar artery rupture. Von Recklinghausen"s disease has well-described vascular manifestations, mainly characterized by stenoses related to intramural tumors (Schwann cell proliferation) and rarely asymptomatic aneurysmal dilatations. In this case, aortography was performed with successful selective catheterization and embolization of the bleeding artery.

وصف الملف: text/html

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=od_______608::68030a020033253164e2672dcd559d01Test
http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1677-54492008000400016&lng=en&tlng=enTest

المؤلفون: García de Marcos, J.A., Dean Ferrer, Alicia, Alamillos Granados, Francisco, Ruiz Masera, J.J., García de Marcos, M.J., Vidal Jiménez, A., Valenzuela Salas, B., García Lainez, Ana

المصدر: Medicina Oral, Patología Oral y Cirugía Bucal (Internet) v.12 n.4 2007
SciELO España. Revistas Científicas Españolas de Ciencias de la Salud
instname
García de Marcos, J.A. ; Dean Ferrer, Alicia ; Alamillos Granados, Francisco ; Ruiz Masera, J.J. ; García de Marcos, M.J. ; Vidal Jiménez, A. ; Valenzuela Salas, B. ; García Lainez, Ana. Gingival neurofibroma in a neurofibromatosis type 1 patient : case report. En: Medicina oral, patología oral y cirugía bucal. Ed. inglesa, 12 4 2007: 5
RODERIC. Repositorio Institucional de la Universitat de Valéncia

مصطلحات موضوعية: gum, UNESCO::CIENCIAS MÉDICAS, NF-I, CIENCIAS MÉDICAS [UNESCO], Von Recklinghausen’s disease, Type I neurofibromatosis, neurofibroma

الوصف: Neurofibroma is a benign peripheral nerve sheath tumour. It is one of the most frequent tumours of neural origin and its presence is one of the clinical criteria for the diagnosis of type 1 neurofibromatosis (NF-I). Neurofibromatosis type 1 is an autosomal dominantly inherited disease due to an alteration in the long arm of chromosome 17. About 50% of NF-I patients have no family history of the disease. NF-I patients have skin lesions (café au lait spots and neurofibromas) as well as bone malformations and central nervous system tumours. Diagnosis is based on a series of clinical criteria. Gingival neurofibroma in NF-I is uncommon. Treatment of neurofibromas is surgical resection. The aim of this paper is to report a case of NF-I with gingival involvement and to review the literature.

وصف الملف: text/html

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::447f6c725d953c99fdb8507e639f44d6Test
http://scielo.isciii.es/scielo.php?script=sci_arttext&pid=S1698-69462007000400005Test