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一头小牛神经管缺陷的影像学和遗传学研究:病例报告及文献综述

Imaging and genetic investigations of neural tube defect in a calf: case report and review of the literature.

作者信息

Cagnotti Giulia, Sammartano Federica, Bertone Iride, Capucchio Maria Teresa, Nicola Isabella, Sacchi Paola, Bellino Claudio, D'Angelo Antonio

机构信息

Department of Veterinary Science, University of Turin, Grugliasco, Torino, Italy.

出版信息

J Vet Diagn Invest. 2019 Mar;31(2):228-234. doi: 10.1177/1040638718823037. Epub 2019 Jan 13.

DOI:10.1177/1040638718823037
PMID:30852979
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC6838817/
Abstract

A 15-d-old female crossbreed calf was referred because of paraplegia since birth. Clinical examination revealed a skin defect covered by hair on the dorsal midline in the thoracic area of the spine. Thoracolumbar spinal cord neuroanatomic localization was determined based on neurologic examination. Computed tomography of the thoracolumbar spine revealed incomplete fusion of the vertebral arches from T6 to T10 and duplication of the vertebral arch of T7. At the level of T6-T7, duplication of the spinal cord with 2 segments completely separated by a septum of hyperattenuating, probably cartilaginous, tissue was noted. Histologically, the spinal segments had different degrees of duplication. Three central canals were detected in one region. Genetic investigation for the presence of methylenetetrahydrofolate reductase (MTHFR) polymorphism, which has been investigated in both human and veterinary medicine as a possible cause of neural tube defects and abortion, was carried out and was negative in both the calf and her dam.

摘要

一头15日龄的雌性杂交犊牛因自出生起就出现截瘫而被转诊。临床检查发现,在脊柱胸段的背侧中线处有一个被毛覆盖的皮肤缺损。基于神经学检查确定了胸腰段脊髓的神经解剖定位。胸腰椎的计算机断层扫描显示,T6至T10的椎弓未完全融合,且T7椎弓重复。在T6 - T7水平,发现脊髓重复,两个节段被一个高密度的、可能是软骨组织的隔膜完全分隔开。组织学检查显示,脊髓节段有不同程度的重复。在一个区域检测到三个中央管。对亚甲基四氢叶酸还原酶(MTHFR)多态性进行了基因检测,在人和兽医学中,该多态性都被研究作为神经管缺陷和流产的可能原因,检测结果在犊牛及其母亲中均为阴性。

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Biochimie. 2016 Jul;126:43-51. doi: 10.1016/j.biochi.2016.05.007. Epub 2016 May 10.
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A systematic review of the risks factors associated with the onset and natural progression of spina bifida.一项关于与脊柱裂发病和自然进展相关风险因素的系统回顾。
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Imaging diagnosis--ultrasonographic diagnosis of diplomyelia in a calf.影像诊断——犊牛脊髓纵裂的超声诊断
Vet Radiol Ultrasound. 2010 Nov-Dec;51(6):667-9. doi: 10.1111/j.1740-8261.2010.01717.x.
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Imaging diagnosis--split cord malformation.影像诊断——脊髓纵裂畸形
Vet Radiol Ultrasound. 2010 Jan-Feb;51(1):57-60. doi: 10.1111/j.1740-8261.2009.01622.x.
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Split spinal cord malformations: report of 22 cases and review of the literature.脊髓纵裂畸形:22例报告及文献复习
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Neuroradiology. 2000 Jul;42(7):471-91. doi: 10.1007/s002340000325.
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