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Characterisation of a Novel Radiological Entity in Neurofibromatosis Type 1 - Diffuse Neurofibromatous Tissue 1型神经纤维瘤病-弥漫性神经纤维瘤组织中一种新的影像学特征
Neurofibromatosis [Working Title] Pub Date : 2021-12-09 DOI: 10.5772/intechopen.101102
Venkata Amruth Nadella, K. Joshi George, C. Soh
{"title":"Characterisation of a Novel Radiological Entity in Neurofibromatosis Type 1 - Diffuse Neurofibromatous Tissue","authors":"Venkata Amruth Nadella, K. Joshi George, C. Soh","doi":"10.5772/intechopen.101102","DOIUrl":"https://doi.org/10.5772/intechopen.101102","url":null,"abstract":"Objectives: To describe the prevalence, demographics and characteristics of a novel radiological entity in neurofibromatosis type 1: diffuse neurofibromatous tissue (DNFT) Design: Aretrospective, descriptive review of MDT and radiology notes. Methods: Of the 1049 patients from the NF1 adult radiology MDT minutes (2009–2021), 77 patients with DNFT were identified and clinical data were collected. MRI scans from 20 DNFT cases were interpreted. Results: Although overall gender distribution of DNFT was roughly even, it was more prevalent in females (73.9%) at the sacroiliac joint—where this entity was most common (29.9%). DNFT often involves the fibrous part of the sacroiliac joint and is seen as diffuse, streaky infiltrating tissues that cause bone erosion without mass effect. The period prevalence of scoliosis and dural ectasia on corresponding spinal levels with spinal DNFT was 62.8 and 51.2%, respectively (n=43). Conclusions: This is the first reported descriptive study of DNFT in NF1 and the first to describe its MRI features in detail. The predilection for the sacroiliac joint and the possible associations with scoliosis and dural ectasia provide important insights that can form the basis for future studies whilst also suggesting the need for active surveillance of this tissue in NF1 patients.","PeriodicalId":210640,"journal":{"name":"Neurofibromatosis [Working Title]","volume":"17 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2021-12-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"126448773","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
Endocrine Conditions in Neurofibromatosis 1 神经纤维瘤病的内分泌状况
Neurofibromatosis [Working Title] Pub Date : 2021-10-05 DOI: 10.5772/intechopen.100371
S. Mehta, Resmy Palliyil Gopi
{"title":"Endocrine Conditions in Neurofibromatosis 1","authors":"S. Mehta, Resmy Palliyil Gopi","doi":"10.5772/intechopen.100371","DOIUrl":"https://doi.org/10.5772/intechopen.100371","url":null,"abstract":"Neurofibromatosis 1 (NF1) is an autosomal-dominant multisystemic neurocutaneous disorder primarily affecting the skin, bone and the nervous system. It has been long appreciated that NF1 is often associated with endocrine disorders. In this chapter, we will discuss the endocrine disorders associated with NF1. The most common endocrinological disorders in NF1 are short stature with or without growth hormone deficiency, central precocious puberty, growth hormone excess. Less common endocrine-related conditions in NF1 include gynecomastia, diencephalic syndrome and the presence of endocrine tumors like pheochromocytoma.","PeriodicalId":210640,"journal":{"name":"Neurofibromatosis [Working Title]","volume":"39 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2021-10-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"116026341","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
Alternative Splicing of Neurofibromatosis Type 1 Exon 23a Modulates Ras/ERK Signaling and Learning Behaviors in Mice 神经纤维瘤病1型外显子23a的选择性剪接调节小鼠Ras/ERK信号和学习行为
Neurofibromatosis [Working Title] Pub Date : 2021-09-24 DOI: 10.5772/intechopen.99678
K. Mader, H. Lou
{"title":"Alternative Splicing of Neurofibromatosis Type 1 Exon 23a Modulates Ras/ERK Signaling and Learning Behaviors in Mice","authors":"K. Mader, H. Lou","doi":"10.5772/intechopen.99678","DOIUrl":"https://doi.org/10.5772/intechopen.99678","url":null,"abstract":"Neurofibromin is one of the few Ras-GTP activating proteins (Ras-GAPs) expressed in the brain. Disruption of its expression leads to the detrimental disease neurofibromatosis type 1 (NF1). Many studies have revealed the crucial role of NF1 in developing and adult tissues. However, these studies have focused on the expression of the entire NF1 gene and largely ignored the role of an alternative splicing event that controls the Ras-GAP function of neurofibromin. The focus of this chapter is NF1 exon 23a. This exon is located in the GAP-related domain (GRD) of neurofibromin. Its expression level, indicated by the percentage of its inclusion in the NF1 mRNA transcripts, has a profound effect on the Ras-GAP function of neurofibromin. In this chapter, we review the expression pattern of exon 23a and the molecular mechanisms that regulate its expression. We then discuss the role of its expression in Ras/ERK signaling and learning behaviors in mice. Lastly, we propose a few directions for future studies.","PeriodicalId":210640,"journal":{"name":"Neurofibromatosis [Working Title]","volume":"3 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2021-09-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"122132787","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
Metabolic Features of Neurofibromatosis Type 1-Associated Tumors 1型神经纤维瘤病相关肿瘤的代谢特征
Neurofibromatosis [Working Title] Pub Date : 2021-08-16 DOI: 10.5772/intechopen.98661
I. Masgras, A. Rasola
{"title":"Metabolic Features of Neurofibromatosis Type 1-Associated Tumors","authors":"I. Masgras, A. Rasola","doi":"10.5772/intechopen.98661","DOIUrl":"https://doi.org/10.5772/intechopen.98661","url":null,"abstract":"Rewiring cellular metabolism is a key hallmark of cancer. Multiple evidences show that alterations in various metabolic circuits directly contribute to the tumorigenic process at different levels (e.g. cancer initiation, metastasis, resistance). However, the characterization of the metabolic profile of Neurofibromatosis type 1 (NF1)-related neoplastic cells has been only partially elucidated both in benign neurofibromas and in malignant peripheral nerve sheath tumors (MPNSTs). Here, we illustrate the state of the art on the knowledge of the metabolic features of tumors related to NF1 and discuss their potential implications for the development of novel therapeutic perspectives.","PeriodicalId":210640,"journal":{"name":"Neurofibromatosis [Working Title]","volume":"3 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2021-08-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"129188463","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
Two Tails for Neurofibromin: A Tale of Two Microtubule-Associated Proteins 神经纤维蛋白的两条尾巴:两个微管相关蛋白的故事
Neurofibromatosis [Working Title] Pub Date : 2021-07-29 DOI: 10.5772/intechopen.97574
Charoula Peta, E. Tsirimonaki, C. Fedonidis, X. Koliou, N. Sakellaridis, D. Mangoura
{"title":"Two Tails for Neurofibromin: A Tale of Two Microtubule-Associated Proteins","authors":"Charoula Peta, E. Tsirimonaki, C. Fedonidis, X. Koliou, N. Sakellaridis, D. Mangoura","doi":"10.5772/intechopen.97574","DOIUrl":"https://doi.org/10.5772/intechopen.97574","url":null,"abstract":"Neurofibromatosis type 1, NF-1, is a common monogenic (NF1) disease, characterized by highly variable clinical presentation and high predisposition for tumors, especially those of astrocytic origin (low- to high-grade gliomas). Unfortunately, very few genotype–phenotype correlations have been possible, and the numerous identified mutations do not offer help for prognosis and patient counselling. Whole gene deletion in animals does not successfully model the disease, as NF-1 cases caused by point mutations could be differentially affected by cell type-specific alternative splice variants of NF1. In this chapter, we will discuss the differential Microtubule-Associated-Protein (MAP) properties of NLS or ΔNLS neurofibromins, produced by the alternatively splicing of exon 51, which also contains a Nuclear Localization Sequence (NLS), in the assembly of the mitotic spindle and in faithful genome transmission. We will also commend on the major theme that emerges about NLS-containing tumor suppressors that function as mitotic MAPs.","PeriodicalId":210640,"journal":{"name":"Neurofibromatosis [Working Title]","volume":"3 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2021-07-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"123673517","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
Seizures in Adult with Neurofibromatosis Type 1 成人1型神经纤维瘤病的癫痫发作
Neurofibromatosis [Working Title] Pub Date : 2021-07-29 DOI: 10.5772/intechopen.98660
D. I. Algın, O. Erdinç
{"title":"Seizures in Adult with Neurofibromatosis Type 1","authors":"D. I. Algın, O. Erdinç","doi":"10.5772/intechopen.98660","DOIUrl":"https://doi.org/10.5772/intechopen.98660","url":null,"abstract":"Neurofibromatosis type 1 (NF1) is an autosomal dominantly inherited disorder, with an estimated prevalence of 1 in 3000–4000 people. Seizures occur 4–7% of individuals with NF1, mostly due to associated brain tumors or cortical malformations. Seizures in NF1 are often relatively easy to control with one or more conventional antiseizure drugs; surgical resection of offending lesions is sometimes pursued. Surgery has been most successful for temporal lobe gliomas. However, if you faced the drug-resistant epilepsy you may consider the cortical malformations, tumors and hippocampal sclerosis. In this chapter, it is aimed to explain the types of seizures, EEG features and the properties of drug therapy in NF1.","PeriodicalId":210640,"journal":{"name":"Neurofibromatosis [Working Title]","volume":"49 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2021-07-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"121654660","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
Clarifying the Pathophysiological Mechanisms of Neuronal Abnormalities of NF1 by Induced-Neuronal (iN) Cells from Human Fibroblasts 阐明人成纤维细胞诱导神经元(iN)细胞致NF1神经元异常的病理生理机制
Neurofibromatosis [Working Title] Pub Date : 2021-07-05 DOI: 10.5772/INTECHOPEN.98817
N. Sagata, Y. Sakai, Takahiro A Kato
{"title":"Clarifying the Pathophysiological Mechanisms of Neuronal Abnormalities of NF1 by Induced-Neuronal (iN) Cells from Human Fibroblasts","authors":"N. Sagata, Y. Sakai, Takahiro A Kato","doi":"10.5772/INTECHOPEN.98817","DOIUrl":"https://doi.org/10.5772/INTECHOPEN.98817","url":null,"abstract":"Direct conversion techniques, which generate induced-neuronal (iN) cells from human fibroblasts in less than two weeks, are expected to discover unknown neuronal phenotypes of neuropsychiatric disorders. Here, we present unique gene expression and cell morphology profiles in iN cells derived from neurofibromatosis type 1 (NF1) patients. NF1 is a single-gene multifaceted disorder with relatively high co-occurrence of autism spectrum disorder (ASD). Adenylyl cyclase (AC) dysfunction is one of the candidate pathways in abnormal neuronal development in the brains of NF1 patients. In our study, microarray-based transcriptomic analysis of iN cells from healthy controls (males) and NF1 patients (males) revealed significantly different gene expression of 149 (110 were upregulated and 39 were downregulated). In iN cells derived from NF1 patients (NF1-iN cells), there was a change in the expression level of 90 genes with the addition of forskolin, an AC activator. Furthermore, treatment with forskolin dramatically changed the cell morphology, especially that of NF1-iN cells, from flat-form to spherical-form. Current pilot data indicate the potential therapeutic effect of forskolin or AC activators on neuronal growth in NF1 patients. Further translational research is needed to validate the pilot findings for future drug development of ASD.","PeriodicalId":210640,"journal":{"name":"Neurofibromatosis [Working Title]","volume":"2 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2021-07-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"132513603","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
Bone Lesions in Children with Neurofibromatosis 神经纤维瘤病儿童的骨损害
Neurofibromatosis [Working Title] Pub Date : 2021-06-15 DOI: 10.5772/INTECHOPEN.97802
N. Laliotis
{"title":"Bone Lesions in Children with Neurofibromatosis","authors":"N. Laliotis","doi":"10.5772/INTECHOPEN.97802","DOIUrl":"https://doi.org/10.5772/INTECHOPEN.97802","url":null,"abstract":"Neurofibromatosis is often related with severe orthopaedic disorders in children. Bone lesions are rare but pose severe difficulties in management. It affects the spine and long bones. Lesions are associated either from enlargement of neurofibromas that affect the normal growth or from primary neurofibromatosis of long bones. Dystrophic scoliosis appears with short curves, with kyphosis and rotation of the apical vertebrae. Usually affect the thoracic spine, with penciling of the ribs. Surgical treatment is challenging in cases of rapid progression. Scoliosis may appear with curvatures similar to those in idiopathic scoliosis, without dysplastic changes of the vertebrae. Anterior bowing of the tibia is manifestation of NF and is distinguished from the benign posterolateral bowing. Evaluation of the medullary canal and presence of cystic lesions in the tibia is essential. Progression to pseudoarthrosis or pathologic fracture is common. Surgical management of tibial pseudoarthrosis remains a difficult procedure. Pseudoarthrosis may appear in fibula, radius or ulna but are extremely rare. Irregular eccentric bone cysts in long bones that are commonly diagnosed after a pathologic fracture, must be differentiated for NF. Malignant transformation of neurofibromas must be considered when there is rapid progression of the lesion.","PeriodicalId":210640,"journal":{"name":"Neurofibromatosis [Working Title]","volume":"4 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2021-06-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"125214894","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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