[show abstract][hide abstract] ABSTRACT: Klippel-Feil syndrome (KFS) is characterized by the developmental failure of the cervical spine and has two dominantly inherited subtypes. Affected individuals who are the children of a consanguineous marriage are extremely rare in the medical literature, but the gene responsible for this recessive trait subtype of KFS has recently been reported.
We identified a family with the KFS phenotype in which their parents have a consanguineous marriage. Radiological examinations revealed that they carry fusion defects and numerical abnormalities in the cervical spine, scoliosis, malformations of the cranial base, and Sprengel's deformity. We applied whole genome linkage and whole-exome sequencing analysis to identify the chromosomal locus and gene mutated in this family. Whole genome linkage analysis revealed a significant linkage to chromosome 17q12-q33 with a LOD score of 4.2. Exome sequencing identified the G > A p.Q84X mutation in the MEOX1 gene, which is segregated based on pedigree status. Homozygous MEOX1 mutations have reportedly caused a similar phenotype in knockout mice.
Here, we report a truncating mutation in the MEOX1 gene in a KFS family with an autosomal recessive trait. Together with another recently reported study and the knockout mouse model, our results suggest that mutations in MEOX1 cause a recessive KFS phenotype in humans.
[show abstract][hide abstract] ABSTRACT: We encountered no study conducted on the evaluation of prevertebral soft tissue (PVST) thickness by magnetic resonance imaging (MRI) during our literature search. Measuring PVST thickness by MRI in the cervical region of adult cases was aimed in the present retrospective study. MATERIAL and
For the intended purpose, a total of 136 patients, composed of both males and females, with ages ranging from 20 to 69 years, in whom no pathology in the cervical prevertebral region was revealed by MRI modality implemented for various reasons, were included in the study.
The upper limit of normal for PVST thickness was measured in our study to be 10 mm, 7 mm and 20 mm at C1, C2-C3 and C6-C7 vertebral levels, respectively. The least variation in the measurements and standard deviations were obtained at C3-C4 vertebral levels. Upon making a comparison between the measured PVST thicknesses on the basis of gender, the measurements at C2,C4 and C7 were found to display significant difference, whereas that was not the case for the measurements obtained at the other levels.
Progressively widespread use of MRI for the traumas inflicting the cervical region makes it obligatory to specify normal values for the thickness of PVST measured by MRI.
[show abstract][hide abstract] ABSTRACT: PURPOSE: To investigate the effect of an anti-TNF-α agent (etanercept) on recovery processes in a partial spinal cord injury (SCI) model using clinical and electrophysiological tests. METHODS: Twenty-four New Zealand rabbits were divided into three groups: group 1 [SCI + 2 ml saline intramuscular (i.m.), n = 8], group 2 (SCI + 2.5 mg/kg etanercept, i.m., 2-4 h after SCI, n = 8) and group 3 (SCI + 2.5 mg/kg etanercept, i.m., 12-24 h after SCI, n = 8). Rabbits were evaluated before SCI, immediately after SCI, 1 week after, and 2 weeks after SCI, clinically by Tarlov scale and electrophysiologically by SEP. RESULTS: Tarlov scores of groups 2 and 3 were significantly better than group 1, 2 weeks after SCI. SEP recovery was significantly better in groups 2 and 3 than group 1, 2 weeks after SCI. CONCLUSIONS: These results show that blocking TNF-α mediated inflammation pathway by an anti-TNF-α agent enhances clinical and electrophysiological recovery processes in partial SCI model.
European Spine Journal 04/2012; · 2.13 Impact Factor
[show abstract][hide abstract] ABSTRACT: Fibrous dysplasia (FD) is an uncommon benign disorder of unknown etiology. It most likely represents a disorder of normal bone development. The disease can involve any bone in the body. In the head and neck, the skull and facial bones are involved in 10-25% of cases of monostotic FD. Involvement of the clivus in monostotic FD is extremely unusual, and has rarely been reported previously. The diagnosis is based on radiological images. We retrospectively reviewed our database and identified three patients with the diagnosis of FD of the clivus. We reviewed the clinical and radiological findings of these patients in this paper.
[show abstract][hide abstract] ABSTRACT: The genetic risk factors that contribute to the risk of developing abdominal aortic aneurysm (AAA) are poorly understood. We assessed the association of endothelial nitric oxide synthase (eNOS) gene polymorphism with AAA.
eNOS gene polymorphism of 61 patients with AAA and 62 control participants were analyzed by polymerase chain reaction (PCR)-restriction technique.
eNOS G894 homozygote T/T genotype polymorphism and 894T allele frequency in patients with AAA were significantly higher than those of the control participants (P = .01, P = .03). Among patients with AAA, the eNOS G894 T/T polymorphism and 894T allele frequency were associated with larger AAAs.
The current study, in a small group of participants, showed a relationship between eNOS G894T polymorphism and AAA.
[show abstract][hide abstract] ABSTRACT: Aim of the study was the assessment of thoracotomies performed for spine surgery.
All patients undergoing spine surgery with thoracotomy between December 2004 and October 2007 were included and evaluated with regard to their age, gender, etiology, the level of the intervention and the types of procedures performed.
A total of 29 patients undergoing spine surgery were included. Mean age was 45 years (range: 6-75) and the female to male ratio was 9 : 20. Trauma (14 patients, 48 %) and malignancy (5 patients, 17 %) were the most frequent reasons for surgery. A total of 7, 8 and 14 patients were operated at T3-T6, T7-T10, and T11-L2 levels, respectively. A left thoracotomy was performed in all but three patients (n = 26). The most frequent procedure was corpectomy and stabilization (n = 25, 86 %).
An anterior approach with thoracotomy is needed for spine surgery in subjects with conditions such as lung cancer, trauma, hydatid cyst, etc. A good preoperative assessment of the vertebrae requiring intervention and the use of appropriate techniques for separating the diaphragm during thoracotomy may provide a good exposure up to the L3 level.
The Thoracic and Cardiovascular Surgeon 01/2009; 56(8):482-4. · 0.93 Impact Factor
[show abstract][hide abstract] ABSTRACT: Burr-hole irrigation and burr-hole drainage without irrigation are the most popular methods for treatment of chronic subdural haematoma. It is not well known if irrigation is necessary or which method has a higher recurrence rate. We compared the recurrence rates of those two methods.
Forty-two patients were treated by burr-hole irrigation (irrigation group), whereas 38 patients were treated by burr-hole drainage (drainage group). Recurrence rate and its relation with sex, age, haematoma localization and aetiology were investigated in both groups.
There was no significant difference between recurrence rates of the two groups. There was also no correlation between recurrence rate and age, sex, haematoma localization, or aetiology.
There was no significant difference between recurrence rates of the two groups. Since the burr-hole drainage method is simpler to carry out, its use may be preferable.
The Canadian journal of neurological sciences. Le journal canadien des sciences neurologiques 03/2007; 34(1):84-7. · 1.33 Impact Factor