Neurofibromatosis最新文献

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Schematic representation of NF-1 clinical features in Italian. 意大利NF-1临床特征示意图。
Neurofibromatosis Pub Date : 1989-01-01
M S Lungarotti
{"title":"Schematic representation of NF-1 clinical features in Italian.","authors":"M S Lungarotti","doi":"","DOIUrl":"","url":null,"abstract":"","PeriodicalId":77754,"journal":{"name":"Neurofibromatosis","volume":"2 5-6","pages":"332-3"},"PeriodicalIF":0.0,"publicationDate":"1989-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"13664566","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Genetic alterations and growth factors in the pathogenesis of von Recklinghausen neurofibromatosis. 遗传改变和生长因子在von Recklinghausen神经纤维瘤病发病中的作用。
Neurofibromatosis Pub Date : 1989-01-01
V M Riccardi
{"title":"Genetic alterations and growth factors in the pathogenesis of von Recklinghausen neurofibromatosis.","authors":"V M Riccardi","doi":"","DOIUrl":"","url":null,"abstract":"<p><p>This paper is a summary review of recent developments with regard to the pathogenesis of von Recklinghausen neurofibromatosis, or NF-1. In the section on molecular biology of NF-1, the focus is on genetic linkage, with a note about prenatal diagnosis, tumor genetics and animal models. In the section on growth factors and receptors, the first element deals with neurofibromatosis as a model of cellular interaction, and particularly the issues of dysplasia versus neoplasia, cell-cell interactions and 'vicious cycle' positive feedback mechanisms; additional elements focus on nerve growth factor-beta, Schwann cell mitogens and other growth factors. In the last section, the focus is on further developments in terms of molecular biology, but with additional emphasis on the need for very intense input from the clinicians characterizing the many phenotypes of NF-1 and its NF and non-NF alternatives.</p>","PeriodicalId":77754,"journal":{"name":"Neurofibromatosis","volume":"2 5-6","pages":"292-8"},"PeriodicalIF":0.0,"publicationDate":"1989-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"13706146","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Neurofibromatosis in Gothenburg, Sweden. II. Intellectual compromise. 瑞典哥德堡的神经纤维瘤病。2知识分子妥协。
Neurofibromatosis Pub Date : 1989-01-01
B Samuelsson, V M Riccardi
{"title":"Neurofibromatosis in Gothenburg, Sweden. II. Intellectual compromise.","authors":"B Samuelsson,&nbsp;V M Riccardi","doi":"","DOIUrl":"","url":null,"abstract":"<p><p>The literature is replete with suggestions that patients with neurofibromatosis (NF) in general and von Recklinghausen NF (NF-1) in specific often manifest mild mental retardation. However, intellectual performance in NF-1 has only rarely been the subject of study in a comparatively uniform population; it has been reported mainly in the setting of case histories. In the present material, representing a population-based cohort of Gothenburg, Sweden, it was possible to assess intelligence levels in 71 of the 74 patients originally identified [Samuelsson B, Samuelsson S: Neurofibromatosis 1989;2:6-22]. Thirty-two of the seventy-one patients (45%) showed slight mental retardation and 2 of these were somewhat more retarded than the remainder. This slight mental retardation was usually recognized during the early school years; it did not appear to be progressive. While patients affected with this problem were placed in remedial or special classes in school, these patients generally did not acquire any vocational training. There is reason to suspect that NF-1 itself leads to some impairment of intellectual development in all patients, for the intellectual achievements of those whose intelligence was judged to be within the normal range appeared to fall short of the average. Non of the patients with normal intelligence had passed any academic examination and many showed achievements less than expected based on the achievements of their healthy relatives. In certain families, the NF appeared to be associated with mild mental retardation more than in other families. Mental retardation of a more severe degree, corresponding to special school level or lower, is not typical of NF-1.(ABSTRACT TRUNCATED AT 250 WORDS)</p>","PeriodicalId":77754,"journal":{"name":"Neurofibromatosis","volume":"2 2","pages":"78-83"},"PeriodicalIF":0.0,"publicationDate":"1989-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"13660544","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Prevalence of neurofibromatosis with neurologic symptoms in Kashmir, India, in 1986. 1986年印度克什米尔伴有神经系统症状的神经纤维瘤病患病率。
Neurofibromatosis Pub Date : 1989-01-01
R Koul, A Motta, S Razdan
{"title":"Prevalence of neurofibromatosis with neurologic symptoms in Kashmir, India, in 1986.","authors":"R Koul,&nbsp;A Motta,&nbsp;S Razdan","doi":"","DOIUrl":"","url":null,"abstract":"","PeriodicalId":77754,"journal":{"name":"Neurofibromatosis","volume":"2 2","pages":"127-8"},"PeriodicalIF":0.0,"publicationDate":"1989-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"13660677","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Ultrastructural evidence for mast cell activation in a case of neurofibromatosis. 神经纤维瘤病一例肥大细胞活化的超微结构证据。
Neurofibromatosis Pub Date : 1989-01-01
R Giorno, J Lieber, H N Claman
{"title":"Ultrastructural evidence for mast cell activation in a case of neurofibromatosis.","authors":"R Giorno,&nbsp;J Lieber,&nbsp;H N Claman","doi":"","DOIUrl":"","url":null,"abstract":"<p><p>Neurofibromas contain fibroblasts and many mast cells, and recent hypotheses have linked fibrous tissue growth to activated mast cells. We describe the ultrastructure of mast cells and fibroblasts in a case of neurofibromatosis. Mast cells were numerous and showed extensive signs of activation. Mast cells were often intimately associated with fibroblasts, and mast cell granules could be seen inside fibroblasts ('transgranulation'). The fibroblasts were also activated. These results suggest that interactions between mast cells and fibroblasts may be important in the prominent collagen production that takes place in these tumors.</p>","PeriodicalId":77754,"journal":{"name":"Neurofibromatosis","volume":"2 1","pages":"35-41"},"PeriodicalIF":0.0,"publicationDate":"1989-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"13661367","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Neurofibrosarcoma as a complication of von Recklinghausen neurofibromatosis. 神经纤维肉瘤作为神经纤维瘤病的并发症。
Neurofibromatosis Pub Date : 1989-01-01
V M Riccardi, P P Powell
{"title":"Neurofibrosarcoma as a complication of von Recklinghausen neurofibromatosis.","authors":"V M Riccardi,&nbsp;P P Powell","doi":"","DOIUrl":"","url":null,"abstract":"<p><p>Neurofibrosarcoma (NFS), which is rare in the general population, occurs with excessive frequency among patients with von Recklinghausen neurofibromatosis (NF-1). Among 693 patients with NF-1 enrolled in the Baylor NF Program, 24 patients (3.5%) developed NFS or one of its variant forms. Nine of the twenty-four patients developed NFS within 3-94 months after enrolling in the Program for other reasons. Focus on these 9 patients alone suggests that the relative risk for patients with NF-1 developing NFS is 10-10,000 times greater than for the general population. Also, in NFS cohorts, patients with NF-1 are almost twice as likely to be under 30 years of age.</p>","PeriodicalId":77754,"journal":{"name":"Neurofibromatosis","volume":"2 3","pages":"152-65"},"PeriodicalIF":0.0,"publicationDate":"1989-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"13662180","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Prevalence of von Recklinghausen neurofibromatosis in Dunedin, New Zealand. 新西兰达尼丁地区von Recklinghausen神经纤维瘤病的患病率。
Neurofibromatosis Pub Date : 1989-01-01
L C Fuller, B Cox, R J Gardner
{"title":"Prevalence of von Recklinghausen neurofibromatosis in Dunedin, New Zealand.","authors":"L C Fuller,&nbsp;B Cox,&nbsp;R J Gardner","doi":"","DOIUrl":"","url":null,"abstract":"<p><p>A point prevalence study of von Recklinghausen neurofibromatosis (NF-1) was undertaken in greater Dunedin, New Zealand, having a base population of 113,700. A total of 52 individuals with NF-1 were identified, for a crude prevalence estimate of 45.7 per 100,000 (95% confidence interval 31.6-59.8 per 100,000) or 1 in 2,190 and an age-standardized prevalence of 48.5 per 100,000 (95% confidence interval 34.7-62.4 per 100,000) or 1 in 2,062. This is the highest prevalence estimate reported to date. This is presumed most likely to be due to a small population effect. The prevalence of NF correlated with age, being greatest among those aged 20-29 years and relatively low among those 60 or more years of age.</p>","PeriodicalId":77754,"journal":{"name":"Neurofibromatosis","volume":"2 5-6","pages":"278-83"},"PeriodicalIF":0.0,"publicationDate":"1989-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"13662454","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
The neurofibromatosis-Noonan syndrome: genetic heterogeneity versus clinical variability. Case report and review of the literature. 神经纤维瘤病-努南综合征:遗传异质性与临床变异性。病例报告及文献复习。
Neurofibromatosis Pub Date : 1989-01-01
Z Borochowitz, N Berant, H Dar, M Berant
{"title":"The neurofibromatosis-Noonan syndrome: genetic heterogeneity versus clinical variability. Case report and review of the literature.","authors":"Z Borochowitz,&nbsp;N Berant,&nbsp;H Dar,&nbsp;M Berant","doi":"","DOIUrl":"","url":null,"abstract":"<p><p>We report on a discordant twin male with neurofibromatosis and manifestations of the Noonan syndrome. He has multiple café-au-lait spots and axillary freckling, relative macrocephaly, ptosis, mid-face hypoplasia, short neck and pulmonic stenosis. The presence of neurofibromatosis associated with Noonan syndrome phenotype in our patient raises the question of a unique disorder sharing characteristics of both conditions.</p>","PeriodicalId":77754,"journal":{"name":"Neurofibromatosis","volume":"2 5-6","pages":"309-14"},"PeriodicalIF":0.0,"publicationDate":"1989-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"13662457","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Breast lesions in generalized neurofibromatosis: breast cancer and cystosarcoma phylloides. 全身性神经纤维瘤病的乳腺病变:乳腺癌和叶状囊肉瘤。
Neurofibromatosis Pub Date : 1989-01-01
M D el-Zawahry, M Farid, A Abd el-Latif, H Horeia, M el-Gindy, G Twakal
{"title":"Breast lesions in generalized neurofibromatosis: breast cancer and cystosarcoma phylloides.","authors":"M D el-Zawahry,&nbsp;M Farid,&nbsp;A Abd el-Latif,&nbsp;H Horeia,&nbsp;M el-Gindy,&nbsp;G Twakal","doi":"","DOIUrl":"","url":null,"abstract":"<p><p>This report describes three cases from one surgical unit of the Mansoura Teaching Hospital of Cairo, Egypt, with generalized neurofibromatosis and associated breast lesions. Two patients had carcinoma of the breast and the third had cystosarcoma phylloides.</p>","PeriodicalId":77754,"journal":{"name":"Neurofibromatosis","volume":"2 2","pages":"121-4"},"PeriodicalIF":0.0,"publicationDate":"1989-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"13704700","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Magnetic resonance imaging evaluation of learning difficulties and incoordination in neurofibromatosis. 磁共振成像评价神经纤维瘤病患者的学习困难和不协调。
Neurofibromatosis Pub Date : 1989-01-01
D W Dunn, K L Roos
{"title":"Magnetic resonance imaging evaluation of learning difficulties and incoordination in neurofibromatosis.","authors":"D W Dunn,&nbsp;K L Roos","doi":"","DOIUrl":"","url":null,"abstract":"<p><p>Areas of increased signal seen on magnetic resonance imaging (MRI) of the brain are frequently present in neurofibromatosis and are considered possible areas of dysplasia or heterotopias. Since Rosman and Pearce [Brain 1967; 90:829-838] have shown that neuronal heterotopias in deep cerebral white matter are associated with mental retardation in neurofibromatosis type 1 (NF-1), we hypothesized that these areas of increased signal seen on MRI should be associated with learning difficulties or incoordination in children with NF-1. Using MRI, we studied 31 children with NF-1 and attempted to correlate the presence of areas of increased signal with learning difficulties or incoordination. We found no association. This suggests that either these areas of increased signal are heterotopias which are not associated with learning difficulties or incoordination, or these areas of increased signal are not heterotopias and are not relevant to the study of learning problems or incoordination in children with NF-1.</p>","PeriodicalId":77754,"journal":{"name":"Neurofibromatosis","volume":"2 1","pages":"1-5"},"PeriodicalIF":0.0,"publicationDate":"1989-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"13661448","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
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