– Neurofibromatoses (NF) constituem um grupo de doenças genéticas com predisposição ao crescimento de múltiplos tumores: tipo 1 (NF1), tipo 2 (NF2) e schwannomatose (SCH). Estas doenças têm em comum a origem neural dos tumores e os sinais cutâneos. Devido à sua variabilidade fenotípica, curso progressivo, multiplicidade de órgãos acometidos e evolução imprevisível, as NF frequentemente necessitam de especialistas em NF para o acompanhamento.
– A neurofibromatose tipo I (doença de von Recklinghausen) é uma doença autossômica dominante cujo diagnóstico é feito com base em critérios clínicos. É um distúrbio relacionado a mutações no gene neurofibromina 1 (NF1), um gene supressor tumoral. As três principais manifestações: neurofibromas, manchas café com leite e nódulos de Lisch ocorrem em mais de 90% dos pacientes até a puberdade. Além dos neuromas acústicos unilaterais, a neurofibromatose 1, podem também apresentar, sardas axilares e inguinais, gliomas ópticos, hamartomas de íris e lesões ósseas displásicas. Atualmente, não existe cura para a NF1, porém existem medidas paliativas que melhoram as perspectivas de vida útil dos indivíduos afetados. São pacientes que, em geral, apresentam expectativa de vida normal, atividades acadêmicas e profissionais produtivas, além de vida afetiva regular. O aconselhamento genético é importante no intuito de orientar os pais de uma criança afetada, assim como esclarecê-los a respeito do risco de recorrência em outras gestações
– A neurofibromatose tipo II é um distúrbio autossômico dominante raro, causado por gene para neurofibromina 2 (NF2), um inibidor da proliferação celular contato-dependente. Suas principais características são os neuromas acústicos bilaterais, que podem ser acompanhados por outros tumores do sistema nervoso central ou periférico, incluindo neurofibromas, meningiomas, gliomas e schwannomas.
■ Increase breast cancer risk in women with neurofibromatosis type 1: a meta-analysis and systematic review of the literature
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■ Jejunal stromal tumor and neurofibromatosis.
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■ Antiphospholipid syndrome and neurofibromatosis type I: a coincidence or new association?
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■ Impact of surgery on long-term results of hearing in neurofibromatosis type-2 associated vestibular schwannomas
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■ Hallazgos clínicos y epidemiológicos en la neurofibromatosis tipo 1 y el complejo esclerosis tuberosa en una serie de pacientes pediátricos.
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■ Early genetic diagnosis of neurofibromatosis type 2 from skin plaque pexiform schwannomas in childhood
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■ Attention déficit hyperactivity disorderr in neurofibromatosis type 1: evaluation with a continuouus performance test
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■ The characteristics of 76 atypical neurofibromas as precursors to neurofibromatosis 1 associated malignant peripheral nerve sheath tumors
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■ Medullary unidentified bright objects in neurofibromatosis typ 1: a case series
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■ Cutaneous neurofibromas in neurofibromatosis type I: a quantiative natural history study
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Br J Cancer. 2018 Jun 12; 118(12): 1539–1548
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■ Worries and needs of adults and parentes of adults with neurofibromatosis type 1
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■ Increased insulin sensitivity in individuals with neurofibromatosis type 1.
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■ Estimulación eléctrica medular en el paciente con neurofibromatosis tipo 1: reporte de un caso
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■ Malignant peripheral nerve sheath tumor with and without neurofibromatosis type 1.Vasconcelos, Roberto Andr
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■ Computerized cognitive training for children with neurofibromatosis type 1: a pilot resting-state fMRI study
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■ Clinical presentation and prognostic indicators in 100 adults and children with neurofibromatosis 1 associated non-optic pathway brain gliomas
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■ Receptor of ghrelin is expressed in cutaneous neurofibroma of individuals with neurofibromatosis 1
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■ Orbital/Peri-orbital plexiform neurofibromas in children with neurofibromatosis type 1: multi-disciplinary recommendations for care
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■ Evaluation of quality of life in adults with neurofibromatosis 1 (NF1) using the impacto f NF1 on Quality of Life (INF1-QOL) questionnaire
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■ Characterization and utilization of an international neurofibromatosis web-based patient-entered registry: an observational study
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■ Cochlear implant in a patient with neurofibromatosis type 2 undergoing radiotherapy.
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■ Disease burden and symptom structure of autismo in neurofibromatosis type 1: a study of the International NF1 Consortium Team (INFACT)
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■ Avaliação da motricidade orofacial em indivíduos com neurofibromatose tipo 1.
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■ Neurofibromatosis tipo 1 (NF1) y su diagnóstico molecular como estrategia del diagnóstico diferencial y a edades tempranas.
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Rev. méd. Chile, Oct 2015, vol.143, no.10, p.1320-133
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■ Neurofibromatoses: part 1 – Diagnosis and differential diagnosis.
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http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0004-282X2014000300241&lng=en&nrm=iso
■ Neurofibromatosis: part 2 – clinical management
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■ Estimulación eléctrica medular en el paciente con neurofibromatosis tipo 1: reporte de un caso
Rojas-Fernández, V. et al.
Rev. Soc. Esp. Dolor, Ago 2017, vol.24, no.4, p.211-214
http://scielo.isciii.es/scielo.php?script=sci_arttext&pid=S1134-80462017000400211&lng=es&nrm=iso
■ Neurofibromatosis: type 1 and 2
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■ Neurofibromatose tipo 1: relato de um caso clínico.
Marques, Ana Catarina and Dinis, Fátima
Rev Port Med Geral Fam, Set 2013, vol.29, no.5, p.322-326
http://www.scielo.mec.pt/scielo.php?script=sci_arttext&pid=S2182-51732013000500007&lng=pt&nrm=iso
■ Dr Paulo Fernando Leite
Cardiologia/Prevenção Cardiovascular
Estratificação de Risco Cardiovascular
Consultório: Rua Padre Rolim 815/sala 601
Tel: 33245518
CRMMG: 7026
Email: pfleite1873@gmail.com
Data: Dez 2019