Metabolic effects and the methylenetetrahydrofolate reductase (MTHFR) polymorphism associated with neural tube defects in southern Brazil

2004 ◽  
Vol 70 (7) ◽  
pp. 459-463 ◽  
Author(s):  
Têmis Maria Félix ◽  
Sandra Leistner ◽  
Roberto Giugliani
Keyword(s):  
Neural Tube ◽  
Neural Tube Defects ◽  
Methylenetetrahydrofolate Reductase ◽  
Metabolic Effects ◽  
Southern Brazil ◽  
Mthfr Polymorphism

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

2019 ◽  
Vol 31 (2) ◽  
pp. 228-234 ◽  
Author(s):  
Giulia Cagnotti ◽  
Federica Sammartano ◽  
Iride Bertone ◽  
Maria Teresa Capucchio ◽  
Isabella Nicola ◽  
...  
Keyword(s):  
Spinal Cord ◽  
Neural Tube ◽  
Methylenetetrahydrofolate Reductase ◽  
Thoracolumbar Spine ◽  
Incomplete Fusion ◽  
Skin Defect ◽  
Mthfr Polymorphism ◽  
Dorsal Midline ◽  
Spinal Segments ◽  
Vertebral Arch

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.

Methylenetetrahydrofolate reductase mutation and neural tube defects

The Lancet ◽  
1996 ◽  
Vol 348 (9033) ◽  
pp. 1037-1038 ◽  
Author(s):  
Peadar N Kirke ◽  
James L Mills ◽  
Alexander S Whitehead ◽  
Anne Molloy ◽  
John M Scott
Keyword(s):  
Neural Tube ◽  
Neural Tube Defects ◽  
Methylenetetrahydrofolate Reductase

scholarly journals A Second Common Mutation in the Methylenetetrahydrofolate Reductase Gene: An Additional Risk Factor for Neural-Tube Defects?

1998 ◽  
Vol 62 (5) ◽  
pp. 1044-1051 ◽  
Author(s):  
Nathalie M.J. van der Put ◽  
Fons Gabreëls ◽  
Erik M.B. Stevens ◽  
Jan A.M. Smeitink ◽  
Frans J.M. Trijbels ◽  
...  
Keyword(s):  
Risk Factor ◽  
Neural Tube ◽  
Neural Tube Defects ◽  
Methylenetetrahydrofolate Reductase ◽  
Common Mutation ◽  
Additional Risk Factor ◽  
Additional Risk ◽  
Reductase Gene ◽  
Methylenetetrahydrofolate Reductase Gene

Metabolic effects of C677T and A1298C mutations at the MTHFR gene in Brazilian children with neural tube defects

2002 ◽  
Vol 318 (1-2) ◽  
pp. 139-143 ◽  
Author(s):  
Andrea L.A Cunha ◽  
Mario H Hirata ◽  
Chong A Kim ◽  
Elvira M Guerra-Shinohara ◽  
Kymio Nonoyama ◽  
...  
Keyword(s):  
Neural Tube ◽  
Neural Tube Defects ◽  
Mthfr Gene ◽  
Metabolic Effects ◽  
Brazilian Children

Updated investigations of the role of methylenetetrahydrofolate reductase in human neural tube defects

2003 ◽  
Vol 63 (3) ◽  
pp. 210-214 ◽  
Author(s):  
E Rampersaud ◽  
EC Melvin ◽  
D Siegel ◽  
L Mehltretter ◽  
ME Dickerson ◽  
...  
Keyword(s):  
Neural Tube ◽  
Neural Tube Defects ◽  
Methylenetetrahydrofolate Reductase
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