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Neurofibromatosis最新文献

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Is the gene for von Recklinghausen neurofibromatosis somatically unstable? von Recklinghausen神经纤维瘤病的基因是不稳定的吗?
Neurofibromatosis Pub Date : 1989-01-01
R H Schaible
{"title":"Is the gene for von Recklinghausen neurofibromatosis somatically unstable?","authors":"R H Schaible","doi":"","DOIUrl":"","url":null,"abstract":"<p><p>The yellow-nonyellow pattern of the tortoiseshell guinea pig is presented as a model for the distribution of mutant and nonmutant neural-crest cells in von Recklinghausen neurofibromatosis (NF-1). The following hypotheses are offered to explain the developmental genetics of the variable phenotype. (1) The gene for NF-1 is somatically unstable; reverse somatic mutation occurs at a high frequency among the stem cells of clones of neural-crest cells in all affected individuals. (2) The normal reverted cells suppress the proliferation of residual mutant cells when both types are in close proximity. (3) At puberty, proliferation of normal cells decelerates, but proliferation in islands of residual mutant cells accelerates and results in the development of neurofibromas. (4) Plexiform neurofibromas occur when reverse mutation fails to occur or takes place relatively late within a large clonal population of mutant cells.</p>","PeriodicalId":77754,"journal":{"name":"Neurofibromatosis","volume":"2 3","pages":"138-51"},"PeriodicalIF":0.0,"publicationDate":"1989-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"13662178","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
Autosomal dominant familial angiolipomatosis clinically mimicking neurofibromatosis. 常染色体显性家族性血管脂肪瘤病，临床类似神经纤维瘤病。
Neurofibromatosis Pub Date : 1989-01-01
J C Goodman, D S Baskin
{"title":"Autosomal dominant familial angiolipomatosis clinically mimicking neurofibromatosis.","authors":"J C Goodman,&nbsp;D S Baskin","doi":"","DOIUrl":"","url":null,"abstract":"<p><p>The autosomal dominant form of familial angiolipomatosis may be mistaken for peripheral neurofibromatosis (NF-1) due to the similarity of the family history and the occurrence of multiple subcutaneous masses, but histopathological examination of the tumors readily distinguishes these two diseases. We report here a case of familial angiolipomatosis, which was initially though to be neurofibromatosis, and the occurrence in this patient of a granular cell tumor similar to such tumors occasionally seen in neurofibromatosis. A review of the literature discloses intriguing parallels between familial angiolipomatosis and neurofibromatosis, suggesting that similar pathogenetic mechanisms may operate in both diseases.</p>","PeriodicalId":77754,"journal":{"name":"Neurofibromatosis","volume":"2 5-6","pages":"326-31"},"PeriodicalIF":0.0,"publicationDate":"1989-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"13664565","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
Exposure of newborn mice to adenosine causes neural crest dysplasia and tumor formation. 新生小鼠暴露于腺苷会导致神经嵴发育不良和肿瘤形成。
Neurofibromatosis Pub Date : 1989-01-01
A T Nozue, S Ono
{"title":"Exposure of newborn mice to adenosine causes neural crest dysplasia and tumor formation.","authors":"A T Nozue,&nbsp;S Ono","doi":"","DOIUrl":"","url":null,"abstract":"<p><p>In the first part of this paper, we show that intraperitoneal injection of adenosine into newborn mice causes multiple neural crest tumors, neural crest hyperplasia, and heterotopic melanin pigmentation. In the second part, we review published data to propose (1) that microtubule proteins, phosphorylated through the action of calmodulin-dependent kinase and cyclic adenosine monophosphate and the adenosine A2 receptor of neural crest cells, may participate in neurotransmission and (2) that at least some neural crest tumors may be associated with disorders of neurotransmission in embryonic neural crest cells.</p>","PeriodicalId":77754,"journal":{"name":"Neurofibromatosis","volume":"2 5-6","pages":"261-73"},"PeriodicalIF":0.0,"publicationDate":"1989-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"13630753","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
Mast cell-basophil system in tumor growth. 肥大细胞-嗜碱性系统在肿瘤生长中的作用。
Neurofibromatosis Pub Date : 1989-01-01
I D Ionov
{"title":"Mast cell-basophil system in tumor growth.","authors":"I D Ionov","doi":"","DOIUrl":"","url":null,"abstract":"","PeriodicalId":77754,"journal":{"name":"Neurofibromatosis","volume":"2 4","pages":"204-12"},"PeriodicalIF":0.0,"publicationDate":"1989-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"13841136","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. IV. Genetic analyses. 瑞典哥德堡的神经纤维瘤病。四、基因分析。
Neurofibromatosis Pub Date : 1989-01-01
B Samuelsson, H O Akesson
{"title":"Neurofibromatosis in Gothenburg, Sweden. IV. Genetic analyses.","authors":"B Samuelsson,&nbsp;H O Akesson","doi":"","DOIUrl":"","url":null,"abstract":"<p><p>The genetic analysis undertaken here shows that the direct (i.e. proband) method for calculating risk figures is not readily applicable to von Recklinghausen neurofibromatosis (NF-1); the selection of available sibling groups for analysis becomes biased in various ways, primarily because of the wide phenotypic variation of the disease. However, indirect methods of analysis confirm that NF-1 shows autosomal dominant inheritance with full penetrance. The existence of an unusually high mutation frequency is also confirmed. In this study it is estimated to be between 4.3 x 10(-5) and 6.5 x 10(-5). However, in contrast to the findings of others, among sporadic cases, both their distribution within sibships and parental ages at delivery did not differ from random distributions. An assessment of the degree of severity of NF-1 and comparisons of the sporadic cases with the familial cases produced no evidence of any clinical somatic differences between the two groups, likewise for psychiatric evaluations of the two groups. Apart from 2 cases with non-NF-1 segmental forms of NF, it was not possible to distinguish alternative forms of NF among the sporadic cases. A pair of monozygotic twins with NF-1 is discussed with reference to the nature and localization of their respective tumours, which are not identical, indicating the influence of factors beyond the mutant NF-1 gene itself on the manifestations of the disease. In a genealogical study involving about 3,000 ancestors of patients from Gothenburg with known NF-1, families with common ancestors were not found, nor was it possible to demonstrate a tendency to clustering in one geographical area or isolated locality.</p>","PeriodicalId":77754,"journal":{"name":"Neurofibromatosis","volume":"2 2","pages":"107-15"},"PeriodicalIF":0.0,"publicationDate":"1989-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"13660674","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
Stroke in an infant prior to the development of manifestations of neurofibromatosis. 在出现神经纤维瘤病表现之前的婴儿中风。
Neurofibromatosis Pub Date : 1989-01-01
L Hornstein, D Borchers
{"title":"Stroke in an infant prior to the development of manifestations of neurofibromatosis.","authors":"L Hornstein,&nbsp;D Borchers","doi":"","DOIUrl":"","url":null,"abstract":"<p><p>Although the association of strokes and von Recklinghausen neurofibromatosis (NF-1) in young children is uncommon, it is obviously an important complication of this disorder. The few cases that have been described were reported primarily in the radiological literature. Moreover, most of the children reported were already known to have NF-1 or they had a positive family history for it. We report an infant who, at 7 weeks of age, suffered a stroke with resulting hemiparesis, prior to the development of other manifestations of NF-1. Pediatricians and neurologists need to be aware of this association and of the need for careful follow-up of infants with strokes, with particular attention to signs of neurofibromatosis.</p>","PeriodicalId":77754,"journal":{"name":"Neurofibromatosis","volume":"2 2","pages":"116-20"},"PeriodicalIF":0.0,"publicationDate":"1989-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"13660675","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
Bilateral internal auditory canal enlargement without acoustic nerve tumor in von Recklinghausen neurofibromatosis. von Recklinghausen神经纤维瘤病双侧内耳道扩大无听神经肿瘤。
Neurofibromatosis Pub Date : 1989-01-01
K Kitamura, T Senba, A Komatsuzaki
{"title":"Bilateral internal auditory canal enlargement without acoustic nerve tumor in von Recklinghausen neurofibromatosis.","authors":"K Kitamura,&nbsp;T Senba,&nbsp;A Komatsuzaki","doi":"","DOIUrl":"","url":null,"abstract":"<p><p>The common (and definitive) intracranial tumors in patients with one form of neurofibromatosis (NF), bilateral acoustic NF (NF-2), are bilateral acoustic neuromas. In this study, we present 2 cases with what appears to be another form of NF, namely, NF-1, who showed bilateral enlargement of the internal auditory canals. Bilateral caloric responses were remarkably impaired in both cases; a unilateral sensorineural hearing loss was observed in 1. No tumor was demonstrated in the enlarged internal auditory canals in either case. Although the pathophysiology remains uncertain, some patients with NF-1 show abnormal cochleovestibular function in association with bilateral internal auditory canal enlargement without an acoustic tumor.</p>","PeriodicalId":77754,"journal":{"name":"Neurofibromatosis","volume":"2 1","pages":"47-52"},"PeriodicalIF":0.0,"publicationDate":"1989-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"13661369","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
Schematic representation of NF-1 clinical features in German. 德国NF-1临床特征示意图。
Neurofibromatosis Pub Date : 1989-01-01
V F Mautner, S Pulst
{"title":"Schematic representation of NF-1 clinical features in German.","authors":"V F Mautner,&nbsp;S Pulst","doi":"","DOIUrl":"","url":null,"abstract":"","PeriodicalId":77754,"journal":{"name":"Neurofibromatosis","volume":"2 3","pages":"176-7"},"PeriodicalIF":0.0,"publicationDate":"1989-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"13662184","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
Intracranial abnormalities associated with facial plexiform neurofibromas in neurofibromatosis type 1. 1型神经纤维瘤病伴面神经纤维瘤的颅内异常。
Neurofibromatosis Pub Date : 1989-01-01
E Boltshauser, H Stocker, H Sailer, A Valavanis
{"title":"Intracranial abnormalities associated with facial plexiform neurofibromas in neurofibromatosis type 1.","authors":"E Boltshauser,&nbsp;H Stocker,&nbsp;H Sailer,&nbsp;A Valavanis","doi":"","DOIUrl":"","url":null,"abstract":"<p><p>From 1975 to 1988 seventeen patients with neurofibromatosis type 1 and a disfiguring facial plexiform neurofibroma (FPN) were investigated. The FPN was left-sided in 13 patients. It was orbital/periorbital in 4, lower facial in 7 and involved the whole face in 6 subjects. Neuroimaging (n = 13) revealed a tumor (of optic pathways or basal ganglia) in 8, an ipsilateral middle cranial fossa arachnoid cyst in 2, multiple areas of high signal intensity (in T2-weighted magnetic resonance imaging) in 1, and normal findings in 2 patients. In NF-1 patients with FPN there seems to be a high incidence of intracranial tumors and possibly of arachnoid cysts. Our observation has to be confirmed in a larger patient series.</p>","PeriodicalId":77754,"journal":{"name":"Neurofibromatosis","volume":"2 5-6","pages":"274-7"},"PeriodicalIF":0.0,"publicationDate":"1989-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"13662453","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
Anterior sacral meningocele and tuberculous spondylitis of the sacrum in a patient with neurofibromatosis. Case report and review of the literature. 神经纤维瘤病患者的骶前脑膜膨出和骶骨结核性脊柱炎。病例报告及文献复习。
Neurofibromatosis Pub Date : 1989-01-01
B T Mellion, R E George, D K Fischer, M D Lidsky, D S Baskin
{"title":"Anterior sacral meningocele and tuberculous spondylitis of the sacrum in a patient with neurofibromatosis. Case report and review of the literature.","authors":"B T Mellion,&nbsp;R E George,&nbsp;D K Fischer,&nbsp;M D Lidsky,&nbsp;D S Baskin","doi":"","DOIUrl":"","url":null,"abstract":"<p><p>We report a case of an adult male with neurofibromatosis and chronic low back pain. Evaluation revealed an anterior sacral meningocele, pulmonary tuberculosis, and later in the course of his illness, an osteolytic tuberculous mass in the sacrum. The patient was treated medically with a good outcome. The nature of anterior sacral meningoceles and tuberculosis spondylitis, the differential diagnoses, and relevant treatment options are discussed.</p>","PeriodicalId":77754,"journal":{"name":"Neurofibromatosis","volume":"2 5-6","pages":"299-308"},"PeriodicalIF":0.0,"publicationDate":"1989-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"13662456","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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