2005
DOI: 10.1590/s0100-879x2005000900020
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High frequencies of plexiform neurofibromas, mental retardation, learning difficulties, and scoliosis in Brazilian patients with neurofibromatosis type 1

Abstract: A) and four polymorphisms (c.3315-27G>A, V1146I, V1317A, c.4514+11C>G) were identified. These data were recently published.]]>

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Cited by 20 publications
(19 citation statements)
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“…22 In addition, 13 of the 29 men (44.8%) and 6 of the 31 women (19.4%) were overweight, while in the Brazilian adult population, this prevalence is 49% (50.1% in men and 48% in women). 22 Short stature was present in 28.3% of the sample, which was higher than seen in a study by Petramala et al, 7 and lower than seen in the studies of Souza et al 4 and Trovo-Marques et al 8 These studies were conducted in different age groups, and also included children in the analyses. In the Brazilian population survey, 22 the average height (in centimeters) of adults living at the same region in Brazil was high compared to patients with NF1 of this study.…”
Section: Discussionmentioning
confidence: 76%
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“…22 In addition, 13 of the 29 men (44.8%) and 6 of the 31 women (19.4%) were overweight, while in the Brazilian adult population, this prevalence is 49% (50.1% in men and 48% in women). 22 Short stature was present in 28.3% of the sample, which was higher than seen in a study by Petramala et al, 7 and lower than seen in the studies of Souza et al 4 and Trovo-Marques et al 8 These studies were conducted in different age groups, and also included children in the analyses. In the Brazilian population survey, 22 the average height (in centimeters) of adults living at the same region in Brazil was high compared to patients with NF1 of this study.…”
Section: Discussionmentioning
confidence: 76%
“…However, NF1 can also exhibit multisystemic involvement including musculoskeletal, cardiovascular, endocrine, ophthalmic, central and peripheral neural system, learning deficits and speech disorders. [3][4][5] Recently, the first study of nutrient intake in NF1 patients was published, 6 and, although the clinical manifestations of NF1 are well established, data on body composition are scarce 4,[7][8][9][10] and not well known. Low weight, short stature, and reduced body mass index (BMI) were found previously in NF1 patients and can be used as nutritional status indicators.…”
Section: Introductionmentioning
confidence: 99%
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“…Neurofibromin is expressed abundantly in the nervous system (Daston et al 1992). The high incidence of learning deficits and exaggerated painful responses (Creange et al 1999;North et al 1997;Ozonoff 1999;Trovo-Marqui et al 2005) indicate that the single active NF1 allele does not generate sufficient functional neurofibromin to fulfill its normal biological role in the nervous system. Neurofibromin facilitates switching the active form of Ras (Ras-GTP) to its inactive form (Ras-GDP) by serving as a GTPase activating protein (GAP).…”
Section: Introductionmentioning
confidence: 99%
“…Os neurofibromas plexiformes foram observados em 34,1% dos pacientes. Esta prevalência é semelhante à descrita em 55 pacientes brasileiros, e um pouco mais elevada do que a descrita na literatura mundial 21 . Outro estudo também realizado no Brasil detectou a prevalência de neurofibromas plexiformes em 26,9% das 104 crianças e adolescentes avaliados 22 .…”
Section: Discussionunclassified