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Neurofibromatosis PowerPoint Presentation

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Description : Check out this medical PowerPoint presentation titled "Neurofibromatosis" by Shannon Weeks.
This medical PowerPoint presentation talks about Neurofibromatosis, a genetic disorder that affects the growth and development of nerve cells, which can lead to the formation of tumors on nerves throughout the body.
There are three types of neurofibromatosis, i.e., Neurofibromatosis type 1 (NF1), Neurofibromatosis type 2 (NF2) and Schwannomatosis.

Tags : Neurofibromatosis, genetic disorder, Neurofibromatosis type 1, NF1, Neurofibromatosis type 2, NF2, Schwannomatosis, Neurology PowerPoint presentation

Published on : Mar 21, 2023 | Views : 2365 | Downloads : 0

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Slide 1-

Neurofibromatosis By Shannon Weeks
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What is Neurofibromatosis? Neurofibromatosis type I (NF1) is caused by mutation in the neurofibromin gene AKA von Recklinghausen disease , Watson disease An autosomal dominant neurogenetic disorder Characterized by the presence of multiple benign neurofibromas Affects the bone, the nervous system, soft tissue, and the skin Clinical symptoms increase over time Neurologic problems and malignancy may develop
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Neurofibromatosis-1 NF-1 occurs in approximately 1 of 2500-3300 live births This disease can involve various body systems over time Signs can range from benign cutaneous manifestations to extreme disfigurement The mortality rate is higher than that of the healthy population because of the increased potential for malignant transformation of diseased tissues and the development of neurofibrosarcoma Patients with NF-1 have about a 3-15% additional risk of malignant disease in their lifetime All racial groups are affected equally Women and men are affected equally
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Genotype/Phenotype…ect Increased concentrations of nerve growth stimulating activity have been linked with the development of neurofibromatosis NF-1 is a disorder with variable phenotypic expression Some patients may mainly have cutaneous expression, and others may have life-threatening or sever disfigurement The variation of this disease is even shown within families The spontaneous mutation rate is 100 times greater than for many genes, and it is thought to contribute to approximately 30-50% of neurofibromatosis cases. A genotype- phenotype analysis suggests that there is no clear relationship between specific NF1 mutations and clinical features of Neurofibromatosis type 1.
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Diagnostic criteria for NF-1 (The diagnostic criteria are met if 2 or more of the features listed are present.) Six or more café au lait macules larger than 5 mm in greatest diameter in prepubertal individuals and those larger than 15 mm in greatest diameter in postpubertal individuals Two or more neurofibromas of any type or 1 plexiform neurofibroma Freckling in the axillary or inguinal regions Optic glioma Two or more Lisch nodules (iris hamartomas) A distinctive osseous lesion, such as sphenoid dysplasia or thinning of the long bone cortex, with or without pseudoarthrosis A first-degree relative with NF-1 according to the above criteria
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More Clinical Features of NF-1 Scoliosis Pseudarthrosis of the tibia Pheochromocytoma Meningioma Glioma Acoustic neuroma Optic neuroma Mental retardation Hypertension Hypoglycemia Fibromas in Iris Glaucoma - rare
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Neurofibromas Most common benign tumor of NF-1 These tumors are made yp ofof Schwann cells, fibroblasts, mast cells, and vascular components They can form at any place along a nerve Three subtypes of neurofibroma exist: cutaneous, subcutaneous, and plexiform Cutaneous lesions and subcutaneous lesions are circumscribed. These nodules may be brown, pink, or skin colored. They may be soft or firm to the touch Plexiform neurofibromas are noncircumscribed, thick, and irregular, and they can cause disfigurement by entwining important supportive structures Cellular loss of wild type NF1 allele is associated with neurofibromas
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Protein Function/Biochemistry Neurofibromin is a cytoplasmic protein that is expressed in neurons, Schwann cells, oligodendrocytes, astrocytes and leukocytes It is encoded by the gene NF1 It is located on chromosome 17, at the band q11.2 It has several biochemical functions, including association to microtubules and participation in several signaling pathways Alterations in the protein are responsible for a phacomatosis named neurofibromatosis type 1 Neurofibromin has a guanosine triphosphatase (GTPase) region that binds to Ras and positively modulates conversion of guanosine triphosphate (GTP) to guanosine diphosphate (GDP) The protein is necessary for the negative regulation of Ras protein signal; telling us that neurofibromin acts as a tumor suppressor Needed for the negative regulation through the cell cycle
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3-D Visualization
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Ball and Stick
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Analysis of mutations Many different mutations in the neurofibromatosis gene have been described. In 95% of NF1 individuals, a mutation is found in the NF1 gene 5% of the patients, the germline mutation consists of a microdeletion that includes the NF1 gene and several other genes 45 mutations within the NF1 gene are associated with neurofibromatosis type 1 Mutations are found in exon 2 Mutations in this exon involves an insertion of cytosine into codon 5662 and resulted in an early stop codon. Another mutation in exon 2 is from the insertion of the amino acid thymidine at nucleotide 5678, which also creates an early stop codon. Mutations in NF1 can also lead to juvenile myelomonocytic leukemia
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References http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=109826563 http://www.ncbi.nlm.nih.gov/Structure/mmdb/mmdbsrv.cgi?form=6&db=t&Dopt=s&uid=38151 http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=162200