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November 28, 2022

Epithelioid Angiosarcoma of Masticator Space: A Case Report of CT Manifestations and Follow-Up

Epithelioid Angiosarcoma (EA) is a special subtype of angiosar coma, which is common in skin and connective tissue, and its in cidence reaches the peak in men aging over 60 years old. EA oc curring in masticator space was very rarely reported. We reported EA in a young woman with a lesion located in the right masticator space. Plain Computed Tomography (CT) scan showed irregular blocky soft tissue density shadow with unclear boundary. After enhancement, the lesions showed obviously uneven enhancement in the arterial phase, while the lesions showed uneven decreased enhancement in the venous phase, and there was necrotic tissue with no enhancement.

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A New Missense Mutation of SPTBN2 with Spinocerebellar Ataxia Type5: A Case Report

1.1. Background: Spinocerebellar ataxia type 5 (SCA5), domi nant spinocerebellar ataxia caused by mutations in the SPTBN2 gene, SCA5 is clinically described as a slowly progressive cere bellar ataxia with little involvement of the brainstem or spinocere bellar tract or brain, occurring mainly in adulthood.

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A Novel Frameshift Mutation in GPT2 Gene Found by Whole Exome Sequencing Causing Mental Retardation and Seizures

1.1. Objective: Some studies reported GTP2 gene missense mu tations are associated with neurodevelopmental delay with spastic paraplegia and microcephaly. Here, we report a new frameshift mutation of this gene with new clinical presentations in an Iranian family

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