16 research outputs found
High frequencies of plexiform neurofibromas, mental retardation, learning difficulties, and scoliosis in Brazilian patients with neurofibromatosis type 1
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Neurofibromatose tipo 1: aspectos radiol贸gicos do t贸rax Type 1 neurofibromatosis: radiological findings of the chest
No full textOBJETIVO: Identificar altera莽玫es e frequ锚ncias nas radiografias simples do t贸rax sugestivas de neurofibromatose tipo 1 e avaliar a possibilidade de inclus茫o de massa no mediastino posterior como crit茅rio de diagn贸stico de neurofibromatose tipo 1. MATERIAIS E M脡TODOS: Foram realizadas radiografias com t茅cnica padr茫o de t贸rax em p贸stero-anterior e em perfil de 141 pacientes com neurofibromatose tipo 1, atendidos no Servi莽o de Radiologia do Hospital de Base e Faculdade de Medicina de S茫o Jos茅 do Rio Preto, SP. Os resultados obtidos foram avaliados por m茅todos n茫o param茅tricos ao n铆vel de 0,05 de signific芒ncia (p = 0,05). RESULTADOS: No presente estudo, 141 pacientes com neurofibromatose tipo 1 realizaram radiografia de t贸rax, sendo as altera莽玫es mais frequentes: eros茫o 贸ssea das costelas (19,8%), peito escavado (12,0%), cifoescoliose (3,5%) e massas no mediastino posterior (7,1%). Esses resultados sugerem que as massas (neurofibroma e meningocele) devem ser inclu铆das como crit茅rio diagn贸stico para neurofibromatose tipo 1, juntamente com displasia do osso esfenoide, pseudoartrose e afinamento do c贸rtex de ossos longos, conforme definido pelo National Institutes of Health. CONCLUS脙O: A presen莽a das massas no mediastino posterior associada 脿s altera莽玫es 贸sseas caracter铆sticas definidas pelo National Institutes of Health indicam ser um achado consistente para se considerar como crit茅rio diagn贸stico da doen莽a.<br>OBJECTIVE: To identify chest radiography findings suggestive of type 1 neurofibromatosis, establishing their frequency and evaluating the possibility of including the presence of posterior mediastinal masses as a criterion for the diagnosis of type 1 neurofibromatosis. MATERIALS AND METHODS: The present study included 141 patients with type 1 neurofibromatosis assisted at the Service of Radiology of Hospital de Base and Faculdade de Medicina de S茫o Jos茅 do Rio Preto, SP, Brazil, and submitted to standard chest radiography in postero-anterior and lateral views. The results were analyzed by non-parametric methods and the level of statistical significance was set at 0.05 (p = 0.05). RESULTS: The most frequent findings were the following: ribs erosion (19.8%), pectus excavatum (12.0%), kyphoscoliosis (3.5%) and posterior mediastinal masses (7.1%). Such results suggest that posterior mediastinal masses (neurofibroma and meningocele) should be included as a diagnostic criterion of type 1 neurofibromatosis, in conjunction with dysplasia of the sphenoid wing, pseudoarthrosis and thinning of long bone cortex, as defined by the National Institutes of Health. CONCLUSION: The presence of posterior mediastinal masses in association with the typical bone changes defined by the National Institutes of Health is a consistent finding to be considered as a diagnostic criterion of the disease
Low bone mineral density and renal malformation in Mexican patients with Turner syndrome are associated with single nucleotide variants in vitamin D-metabolism genes
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Establishment of in-hospital clinical network for patients with neurofibromatosis type 1 in Nagoya University Hospital
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Chemical and toxicological evaluation along with unprecedented transformation products during photolysis and heterogeneous photocatalysis of chloramphenicol in different aqueous matrices
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