Neurofibromatosis最新文献

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Optic Pathway Gliomas 视神经胶质瘤
Neurofibromatosis Pub Date : 2020-01-01 DOI: 10.1007/978-3-319-31512-6_85-1
E. Hidalgo, Cordelia Orillac, J. Wisoff
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引用次数: 0
Schematic representation of NF-1 clinical features in French. NF-1在法国的临床特征示意图。
Neurofibromatosis Pub Date : 1989-01-01
E Legius, J P Fryns
{"title":"Schematic representation of NF-1 clinical features in French.","authors":"E Legius, J P Fryns","doi":"","DOIUrl":"","url":null,"abstract":"","PeriodicalId":77754,"journal":{"name":"Neurofibromatosis","volume":"2 3","pages":"178-9"},"PeriodicalIF":0.0,"publicationDate":"1989-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"13662185","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
Recognition of neurofibromatosis before von Recklinghausen. von Recklinghausen前神经纤维瘤病的识别。
Neurofibromatosis Pub Date : 1989-01-01
F Hecht
{"title":"Recognition of neurofibromatosis before von Recklinghausen.","authors":"F Hecht","doi":"","DOIUrl":"","url":null,"abstract":"","PeriodicalId":77754,"journal":{"name":"Neurofibromatosis","volume":"2 3","pages":"180-4"},"PeriodicalIF":0.0,"publicationDate":"1989-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"13662186","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
Type 2 neurofibromatosis with Lisch nodules. 2型神经纤维瘤病伴利氏结节。
Neurofibromatosis Pub Date : 1989-01-01
N S Garretto, S Ameriso, H A Molina, C Arberas, J Salvat, D Monteverde, R E Sica
{"title":"Type 2 neurofibromatosis with Lisch nodules.","authors":"N S Garretto,&nbsp;S Ameriso,&nbsp;H A Molina,&nbsp;C Arberas,&nbsp;J Salvat,&nbsp;D Monteverde,&nbsp;R E Sica","doi":"","DOIUrl":"","url":null,"abstract":"<p><p>We describe a patient who, throughout a period of 6 years, had several cranial tumors in different locations. Bilateral acoustic neuromas, frontal meningiomas and a brain stem schwannoma were found on clinical and CT scan examinations and were histologically confirmed after surgery. These findings were associated with cutaneous neurofibromas and large café au lait spots suggesting the diagnosis of neurofibromatosis (NF) type 2. However, the presence of Lisch nodules, which characterizes NF-1, makes this patient rather unique. Clinical findings in the patient's relatives suggested the existence of NF-1 within the family. That is, the patient combines features of both types of NF.</p>","PeriodicalId":77754,"journal":{"name":"Neurofibromatosis","volume":"2 5-6","pages":"315-21"},"PeriodicalIF":0.0,"publicationDate":"1989-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"13662458","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 type 1 with bilateral acoustic neuromas. 1型神经纤维瘤病伴双侧听神经瘤。
Neurofibromatosis Pub Date : 1989-01-01
V V Michels, J P Whisnant, J A Garrity, G M Miller
{"title":"Neurofibromatosis type 1 with bilateral acoustic neuromas.","authors":"V V Michels,&nbsp;J P Whisnant,&nbsp;J A Garrity,&nbsp;G M Miller","doi":"","DOIUrl":"","url":null,"abstract":"<p><p>A patient diagnosed as having neurofibromatosis type 1 (NF-1) on the basis of 6 café-au-lait macules, multiple subcutaneous neurofibromas and 1 Lisch nodule is described. He later was found to have bilateral acoustic nerve tumors plus multiple intracranial meningiomas. This patient is one of a few adequately described cases who clinically meets diagnostic criteria for NF-1 and has bilateral acoustic nerve tumors.</p>","PeriodicalId":77754,"journal":{"name":"Neurofibromatosis","volume":"2 4","pages":"213-7"},"PeriodicalIF":0.0,"publicationDate":"1989-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"13664059","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
Jonathan Aaron Arkin: a commemoration. Jonathan Aaron Arkin:纪念活动。
Neurofibromatosis Pub Date : 1989-01-01
J G Raffensperger, G S Gerson
{"title":"Jonathan Aaron Arkin: a commemoration.","authors":"J G Raffensperger,&nbsp;G S Gerson","doi":"","DOIUrl":"","url":null,"abstract":"","PeriodicalId":77754,"journal":{"name":"Neurofibromatosis","volume":"2 5-6","pages":"334-8"},"PeriodicalIF":0.0,"publicationDate":"1989-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"13664567","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
Tumor spread in unilateral optic glioma. Study report No. 2. North American Study Group for Optic Glioma. 单侧视神经胶质瘤肿瘤扩散。研究报告2。北美视神经胶质瘤研究小组。
Neurofibromatosis Pub Date : 1989-01-01
{"title":"Tumor spread in unilateral optic glioma. Study report No. 2. North American Study Group for Optic Glioma.","authors":"","doi":"","DOIUrl":"","url":null,"abstract":"<p><p>We describe 106 cases with unilateral optic nerve gliomas confined initially to the orbit. Thirty-four have been observed without biopsy or excision, 28 had a biopsy and 44 had complete excision of the glioma. Data on these cases were collected from 21 academic centers and comprise the second report by a recently formed study group. Some of the cases have been previously reported, but the present study extends their follow-up. The cases have been analyzed with regard to the certainty of diagnosis, the basis for unilaterality, the type of excision, duration of follow-up and growth of the tumor. We addressed three related questions. Can even the most sophisticated neuroimaging and histological techniques reliably detect the cranial extent of an optic glioma? Is the tumor often enough unifocal in one nerve so that excision has a reasonable chance to effect a cure? What percentage of untreated unilateral optic gliomas eventually spread to the chiasm? While this is an ongoing study, data collected to date seem to indicate that most tumors are unicentric and that only infrequently do they invade the chiasm (4 of 106 cases).</p>","PeriodicalId":77754,"journal":{"name":"Neurofibromatosis","volume":"2 4","pages":"195-203"},"PeriodicalIF":0.0,"publicationDate":"1989-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"13781850","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
Effect of dimethylsulfoxide on human gliomas: correlations between the nuclear magnetic resonance spectra and the transformed phenotypes of the tumor cells. 二甲亚砜对人类胶质瘤的影响:核磁共振谱与肿瘤细胞转化表型之间的相关性。
Neurofibromatosis Pub Date : 1989-01-01
L Geder, K R Metz, J Towfighi, J L Mikus, G D Williams, A J Gaydos, J W Kreider
{"title":"Effect of dimethylsulfoxide on human gliomas: correlations between the nuclear magnetic resonance spectra and the transformed phenotypes of the tumor cells.","authors":"L Geder,&nbsp;K R Metz,&nbsp;J Towfighi,&nbsp;J L Mikus,&nbsp;G D Williams,&nbsp;A J Gaydos,&nbsp;J W Kreider","doi":"","DOIUrl":"","url":null,"abstract":"<p><p>Prolonged in vitro induction of six established human glioma cell lines with dimethylsulfoxide (DMSO) generated an adherent human fibroblastoid phenotype. The development of contact-inhibited cell growth coincided with the decreased colony-forming potential of these cells in semisolid medium and with the reduction or elimination of tumorigenicity when transplanted in athymic nude mice. These DMSO-induced changes persisted for at least 19 passages after removal of the inducer from the medium. High-resolution natural-abundance 13C nuclear magnetic resonance spectroscopy showed specific spectral differences between the cell lines with more or less malignant transformed phenotypes: the glioma cells with a higher degree of tumorigenicity and colony-forming potential exhibited more intense myoinositol signals than those with the more benign phenotype.</p>","PeriodicalId":77754,"journal":{"name":"Neurofibromatosis","volume":"2 1","pages":"23-34"},"PeriodicalIF":0.0,"publicationDate":"1989-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"13772177","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. III. Psychiatric and social aspects. 瑞典哥德堡的神经纤维瘤病。3精神病学和社会方面。
Neurofibromatosis Pub Date : 1989-01-01
B Samuelsson, V M Riccardi
{"title":"Neurofibromatosis in Gothenburg, Sweden. III. Psychiatric and social aspects.","authors":"B Samuelsson,&nbsp;V M Riccardi","doi":"","DOIUrl":"","url":null,"abstract":"<p><p>Mental illness affected 23 (33%) of the 69 patients with von Recklinghausen neurofibromatosis (NF-1) who were the primary subjects of this report. Moderately severe or severe mental illness, that is, grade 2 and 3 according to the Comprehensive Psychopathological Rating Scale (CPRS), was found in 15 of the 69 patients (22%). The 23 mentally ill patients did not show any uniform clinical psychiatric syndrome. The most commonly occurring psychiatric diagnoses were depressive syndrome, anxiety state with vegetative dysfunction and organic brain syndrome. There was a significant positive relation between depressive syndrome and organic brain syndrome according to the CPRS rating. Half of the 69 patients complained of mental symptoms in the form of hostile feelings and autonomic disturbances and these were the most frequent psychiatric symptoms; they were also frequent among patients without mental illness. Other common symptoms were sleep difficulties, tiredness, and aches and pains. Among patients with NF-1 there was a significantly positive relation between mental illness and mental retardation, but no significant positive relation between mental illness and physical severity of NF-1. Patients with mental illness also showed a significantly increased frequency of positive neurological findings indicating central nervous manifestations of NF-1.</p>","PeriodicalId":77754,"journal":{"name":"Neurofibromatosis","volume":"2 2","pages":"84-106"},"PeriodicalIF":0.0,"publicationDate":"1989-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"13660545","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
Spinal neurofibroma presenting as atlanto-axial subluxation in von Recklinghausen neurofibromatosis. 脊神经纤维瘤在von Recklinghausen神经纤维瘤病表现为寰枢半脱位。
Neurofibromatosis Pub Date : 1989-01-01
R E Ferner, M Honavar, R W Gullan
{"title":"Spinal neurofibroma presenting as atlanto-axial subluxation in von Recklinghausen neurofibromatosis.","authors":"R E Ferner,&nbsp;M Honavar,&nbsp;R W Gullan","doi":"","DOIUrl":"","url":null,"abstract":"<p><p>A patient with von Recklinghausen neurofibromatosis (NF-1) developed spinal cord compression from atlanto-axial subluxation caused by a neurofibroma involving the odontoid peg. His case is discussed and the relevant literature reviewed.</p>","PeriodicalId":77754,"journal":{"name":"Neurofibromatosis","volume":"2 1","pages":"43-6"},"PeriodicalIF":0.0,"publicationDate":"1989-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"13661368","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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