ABSTRACT
Mitochondrial DNA (mtDNA) is responsible for encoding 13 subunits of the respiratory chain. These subunits are crucial in providing reducing equivalents for the energy-intensive intracellular processes. Leber hereditary optic neuropathy (LHON) is a mitochondrial illness that causes carcinogenesis due to oxidative stress and painless loss of central vision as a result of selective degradation of retinal ganglion cells as well as their axons. We present a case of a 23-year-old male patient who was diagnosed with subacute LHON. The mutation in our patient was found in a less commonly mutated exon sequence of MT-NDL4, which codes for NADH (nicotinamide adenine dinucleotide hydrogen, reduced) dehydrogenase subunit 4L. The MT-ND4L exon is located immediately upstream of the MTD4 exon on the human mtDNA. The take-home message is to always perform a comprehensive mitochondrial genome analysis for identifying rare mutations when LHON is suspected.
ABSTRACT
[Objective]To investigate the treatment of thoracolumbar vertebral fracture without nerve symptoms.[Method]Thirty cases of thoracolumbar vertebrae fracture without nerve and spinal cord symptoms were treated with vertebra body restitution,pedicle screw fixation and posterolateral bone fusion.[Result]All the cases were followed up for 12-27 months,with an average of 15 months.There was no loosening and breaking of internal fixation.A great part of the height of the fractured vertebra body and the intervertebral body angle was restored(P
ABSTRACT
An unstable fracture-dislocation of the spine usually results in a neurological deficit below the level of the injury. For this type of injury to occur at the mid-thoracic level without spinal cord injury is rare. This case report is of a T5-6 fracture-dislocation, without neurological deficit, which occurred in combination with a mid-clavicular fracture and a 5th rib fracture. The patient was treated by halter traction and pelvic traction for 14 days, and cervico-thoraco-lumbosacral orthosis for three months. Plain radiographs and a CT scan taken three months after trauma revealed a good healing process. At the last assessment, made two years post-trauma, the patient was completely asymptomatic with a pain-free full range of back motion, and was able to participate in various sports. In cases where an oblique shear injury of the back is suspected, and in cases of clavicular fracture, rib fracture and/or hemo-pneumothorax, more attention should be given to detecting a possible fracture-dislocation of the mid-thoracic spine without a neurological lesion.
