High frequencies of plexiform neurofibromas, mental retardation, learning difficulties, and scoliosis in Brazilian patients with neurofibromatosis type 1
| Autor: | Marta F. Teixeira, Eny Maria Goloni-Bertollo, Eloiza H. Tajara, Érika Cristina Pavarino-Bertelli, M.P. Muniz, J.R. Antonio, Nelson Iguimar Valério, A.B. Trovó-Marqui |
|---|---|
| Přispěvatelé: | Universidade Estadual Paulista (Unesp), Faculdade de Medicina de São José do Rio Preto (FAMERP) |
| Jazyk: | angličtina |
| Rok vydání: | 2005 |
| Předmět: |
Adult
Male medicine.medical_specialty Inguinal freckling Neurofibromatosis 1 Learning difficulties Adolescent Physiology Immunology Biophysics Scoliosis Biochemistry Short stature Intellectual Disability medicine Neurofibroma Humans General Pharmacology Toxicology and Pharmaceutics Neurofibromatosis Child lcsh:QH301-705.5 Polymorphism Single-Stranded Conformational Aged Neurofibromatosis type I Neurofibroma Plexiform Patient Care Team lcsh:R5-920 business.industry Learning Disabilities General Neuroscience Plexiform neurofibroma Macrocephaly Axillary freckling Mental retardation Cell Biology General Medicine Middle Aged medicine.disease Dermatology Surgery lcsh:Biology (General) Child Preschool Female medicine.symptom business lcsh:Medicine (General) Brazil |
| Zdroj: | Brazilian Journal of Medical and Biological Research, Vol 38, Iss 9, Pp 1441-1447 (2005) SciELO Repositório Institucional da UNESP Universidade Estadual Paulista (UNESP) instacron:UNESP Brazilian Journal of Medical and Biological Research, Volume: 38, Issue: 9, Pages: 1441-1447, Published: SEP 2005 ResearcherID Brazilian Journal of Medical and Biological Research v.38 n.9 2005 Brazilian Journal of Medical and Biological Research Associação Brasileira de Divulgação Científica (ABDC) instacron:ABDC |
| ISSN: | 0034-7310 0100-879X |
| Popis: | Submitted by Guilherme Lemeszenski (guilherme@nead.unesp.br) on 2013-08-22T18:52:45Z No. of bitstreams: 1 S0100-879X2005000900020.pdf: 485465 bytes, checksum: 5110b9a17f618fd8e6a82959d3d67b61 (MD5) Made available in DSpace on 2013-08-22T18:52:45Z (GMT). No. of bitstreams: 1 S0100-879X2005000900020.pdf: 485465 bytes, checksum: 5110b9a17f618fd8e6a82959d3d67b61 (MD5) Previous issue date: 2005-09-01 Made available in DSpace on 2013-09-30T19:44:12Z (GMT). No. of bitstreams: 2 S0100-879X2005000900020.pdf: 485465 bytes, checksum: 5110b9a17f618fd8e6a82959d3d67b61 (MD5) S0100-879X2005000900020.pdf.txt: 27370 bytes, checksum: f81fbc7689a2586b87b9cbad73597ce0 (MD5) Previous issue date: 2005-09-01 Submitted by Vitor Silverio Rodrigues (vitorsrodrigues@reitoria.unesp.br) on 2014-05-20T15:11:33Z No. of bitstreams: 2 S0100-879X2005000900020.pdf: 485465 bytes, checksum: 5110b9a17f618fd8e6a82959d3d67b61 (MD5) S0100-879X2005000900020.pdf.txt: 27370 bytes, checksum: f81fbc7689a2586b87b9cbad73597ce0 (MD5) Made available in DSpace on 2014-05-20T15:11:33Z (GMT). No. of bitstreams: 2 S0100-879X2005000900020.pdf: 485465 bytes, checksum: 5110b9a17f618fd8e6a82959d3d67b61 (MD5) S0100-879X2005000900020.pdf.txt: 27370 bytes, checksum: f81fbc7689a2586b87b9cbad73597ce0 (MD5) Previous issue date: 2005-09-01 A clinical study of Brazilian patients with neurofibromatosis type 1 (NF1) was performed in a multidisciplinary Neurofibromatosis Program called CEPAN (Center of Research and Service in Neurofibromatosis). Among 55 patients (60% females, 40% males) who met the NIH criteria for the diagnosis of NF1, 98% had more than six café-au-lait patches, 94.5% had axillary freckling, 45% had inguinal freckling, and 87.5% had Lisch nodules. Cutaneous neurofibromas were observed in 96%, and 40% presented plexiform neurofibromas. A positive family history of NF1 was found in 60%, and mental retardation occurred in 35%. Some degree of scoliosis was noted in 49%, 51% had macrocephaly, 40% had short stature, 76% had learning difficulties, and 2% had optic gliomas. Unexpectedly high frequencies of plexiform neurofibromas, mental retardation, learning difficulties, and scoliosis were observed, probably reflecting the detailed clinical analysis methods adopted by the Neurofibromatosis Program. These same patients were screened for mutations in the GAP-related domain/GRD (exons 20-27a) by single-strand conformation polymorphism. Four different mutations (Q1189X, 3525-3526delAA, E1356G, c.4111-1G>A) and four polymorphisms (c.3315-27G>A, V1146I, V1317A, c.4514+11C>G) were identified. These data were recently published. Universidade Estadual Paulista Departamento de Biologia Faculdade de Medicina de São José do Rio Preto (FAMERP) Departamento de Biologia Molecular Programa NF1 Universidade Estadual Paulista Departamento de Biologia |
| Databáze: | OpenAIRE |
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