Neurofibromatosis 1
Mostrando 1-12 de 146 artigos, teses e dissertações.
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1. Neurofibromatosis type 1
Radiologia Brasileira. Publicado em: 2022
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2. A rare case of cervical hypoglossal nerve neurofibromas in a patient with type 1 neurofibromatosis
Brazilian Journal of Otorhinolaryngology. Publicado em: 2022
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3. Dermoscopy of the iris: identification of Lisch nodules and contribution to the diagnosis of neurofibromatosis type 1
Abstract Neurofibromatosis is a common genodermatosis, whose diagnosis often involves the participation of a dermatologist. A case of a 38-year-old female patient with four café-au-lait macules and eleven neurofibromas on clinical examination is presented. Dermoscopy allowed the identification of Lisch nodules in the iris, bilaterally. The combination of th
An. Bras. Dermatol.. Publicado em: 2021-08
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4. Reduced bone mineral content and density in neurofibromatosis type 1 and its association with nutrient intake
RESUMO INTRODUÇÃO A Neurofibromatose tipo 1 (NF1) é uma doença genética autossômica dominante caracterizada por envolvimento neurocutâneo e multissistêmico, incluindo baixa densidade mineral óssea (DMO). OBJETIVOS Avaliar características ósseas em indivíduos com NF1 e verificar associação com a ingestão de nutrientes. METODOLOGIA 26 adul
Rev. Assoc. Med. Bras.. Publicado em: 2020-05
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5. Jejunal stromal tumor and neurofibromatosis
Resumo Os tumores estromais gastrointestinais, embora raros, são as neoplasias mesenquimais primárias mais comuns do trato gastrointestinal e originam-se das células intersticiais de Cajal. Apresentam crescimento lento e manifestam sintomas como sangramento, dor ou desconforto abdominal e presença de massa abdominal. Os órgãos mais acometidos são est�
J. Coloproctol. (Rio J.). Publicado em: 05/12/2019
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6. CORRECTION OF SEVERE DYSTROPHIC SCOLIOSIS IN NEUROFIBROMATOSIS 1 WITH POSTERIOR VERTEBRAL COLUMN RESECTION IN MULTIPLE LEVELS
RESUMO Objetivo Avaliar os resultados após a ressecção vertebral posterior (RCVP) múltiplos níveis em pacientes portadores de cifoescoliose grave secundária à neufibromatose tipo 1 (NF-1). Métodos Estudo retrospectivo de 4 pacientes: adultos do sexo masculino, idade média de 26,5 anos, portadores de deformidade rígida e grave, cifose média de 12
Coluna/Columna. Publicado em: 02/09/2019
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7. Lung cancer and parenchymal lung disease in a patient with neurofibromatosis type 1
J. bras. pneumol.. Publicado em: 03/06/2019
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8. Antiphospholipid syndrome and neurofibromatosis type I: a coincidence or new association?
RESUMO | Inúmeros estudos têm relatado anomalias vasculares estruturais e isquemia associada com à neurofibromatose tipo 1 que, acredita-se, resultam da disfunção da neurofibromina, a proteína tipo 1 da neurofibromatose. Casos documentados de síndrome antifosfolípide associada que atendem aos critérios diagnósticos aceitos são excepcionalmente rar
Arq. Bras. Oftalmol.. Publicado em: 2019-03
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9. The role of imaging in diagnosing an unusual manifestation of neurofibromatosis type 1: calvarial dysplasia
Radiol Bras. Publicado em: 2018-04
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10. Increased insulin sensitivity in individuals with neurofibromatosis type 1
ABSTRACT Objects To compare insulin resistance (IR) and metabolic aspects of patients with neurofibromatosis type 1 (NF1) and individuals without the disease. Subjects and methods Forty patients with NF1 were matched by sex, age, and body mass index (BMI) to 40 controls from the community. Blood samples were collected for biochemical assessment. Homeostasi
Arch. Endocrinol. Metab.. Publicado em: 2018-02
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11. Moyamoya syndrome associated with neurofibromatosis type 1 in a pediatric patient
Abstract: Neurofibromatosis type 1 is a multisystem genetic disease of autosomal dominant transmission that reveals important cutaneous manifestations such as café-au-lait spots, multiple neurofibromas, and ephelides in skin fold areas, as well as hamartomatous lesions in the eyes, bones, glands, and central nervous system. Moyamoya disease is a rare progre
An. Bras. Dermatol.. Publicado em: 2017-12
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12. The clinical genetics of phaeochromocytoma and paraganglioma
ABSTRACT Phaeochromocytoma and paraganglioma are rare catecholamine-producing tumours, recognised to have one of the richest hereditary backgrounds of all neoplasms, with germline mutations seen in approximately 30% of patients. They can be a part of genetic syndromes such as MEN 2 or Neurofibromatosis type 1, or can be found as apparently sporadic tumours.
Arch. Endocrinol. Metab.. Publicado em: 2017-09