Association between VEGF and eNOS gene polymorphisms and lumbar disc degeneration in a young Korean population.

Disturbances in blood flow to intervertebral discs (IVD) play an important role in IVD degeneration. Vascular endothelial growth factor (VEGF) and endothelial nitric oxide synthase (eNOS) are extremely important angiogenic factors for vasodilation and neovascularization. We investigated the relationship between single nucleotide polymorphisms (SNPs) of the VEGF and eNOS genes and genetic susceptibility to lumbar IVD degeneration in a young adult Korean population. Two hundred and forty-one participants (aged 18 to 30 years), with or without low back pain, were selected for the study. Magnetic resonance imaging was made of the lumbar spine in all participants. The patient group (N = 102) had low back pain clinically and lumbar IVD degeneration radiographically. The control group (N = 139) included subjects with and without low back pain; all were negative radiographically for lumbar IVD degeneration. Using PCR-RFLP analysis, we analyzed VEGF (-2578C>A, -1154G>A, -634G>C, and 936C>T) and eNOS (-786T>C, 4a4b and 894G>T) SNPs. We made combined analyses of the genes and performed haplotype analyses. There were no significant differences in the genotype distribution of polymorphisms of VEGF and eNOS genes among patients and controls. However, the frequency of VEGF -2578CA +AA/-634CC combined genotypes was significantly higher in patients when compared with controls [odds ratio (OR) = 21.00; 95% confidence interval (CI) = 2.590- 170.240]. The frequencies of the -2578A/-1154A/-634C/936C (OR = 3.831; 95%CI = 1.068-13.742), -2578A/-1154A/-634C (OR = 3.356; 95%CI = 1.198-9.400), and -2578A/-634C/936C (OR = 10.820; 95%CI = 2.811-41.656) haplotypes were also significantly higher in patients than in controls. We conclude that the combined genotype VEGF -2578CA+AA/-634CC is a possible risk factor for IVD degeneration and the VEGF -2578A/-1154A/-634C/936C haplotype may increase the risk for development of IVD degeneration. Furthermore, the VEGF -634C allele appears to be associated with susceptibility to IVD degeneration.

Association of transforming growth factor-beta 1 gene polymorphism with genetic susceptibility to ossification of the posterior longitudinal ligament in Korean patients.

Ossification of the posterior longitudinal ligaments (OPLL) has been considered to be associated with abnormalities of bone metabolism, and transforming growth factor-ß1 (TGF-ß1) has been demonstrated to affect the bone remodeling process. We investigated two SNPs of the TGF-ß1 promoter (-509C>T; rs1800469) and exon 1 (869T>C; rs1982073) in 298 Koreans (98 patients with OPLL and 200 control subjects). The promoter SNP -509C>T was determined by PCR and RFLP, and the TaqMan probe assay was used to determine 869T>C polymorphism genotypes. The subjects were divided into OPLL continuous group (continuous type plus mixed type) and OPLL segmental group (segmental and localized type). We also separately analyzed this association according to gender difference. There was no significant difference in genotype distributions of -509C>T and 869T>C polymorphisms of the TGF-ß1 gene between OPLL patients and controls. A combined analysis of TGF-ß1 -509C>T and 869T>C polymorphisms showed no significant association with OPLL, and a subgroup analysis did not show any significant correlation between the SNP -509C>T or SNP 869T>C and OPLL subgroups. Stratification by gender demonstrated no significant effect. We conclude that promoter region (-509C>T) and exon 1 (869T>C) polymorphisms are not associated with OPLL in the Korean population.

Simultaneous unilateral internal carotid artery and occlusive basilar artery dissections.

We report a case of brain stem infarction. The case is interesting for simultaneous occurrence of basilar artery (BA) occlusion caused by BA dissection and left internal carotid artery (ICA) dissection after a minor cervical trauma. Stents were implanted at the ICA dissection, and BA occlusion was treated conservatively.

The role of genetic factors in the development of hemifacial spasm: preliminary results.

Hemifacial spasm (HFS) has been reported to result from vascular compression of the facial nerve at the root entry zone. The pathogenesis of HFS is not completely understood. Some study groups described that the vascular compression was due to the morphological changes of the vessel such as vertebral artery shifting. In this study, radiological evidence of VA shifting was identified in 26 (59.1%) of 44 patients with 3D-TOF MRA. We hypothesized that a genetic factor might be present for vascular change and tried to find out the role of a genetic factor more susceptible to vascular change causing vascular compression. We examined a single nucleotide polymorphism (SNP) in the genes related to vascular change such as methylenetetrahydrofolate reductase (MTHFR), thymidylate synthase enhancer region (TSER), endothelial nitric oxide synthase (eNOS), and vascular endothelial growth factor (VEGF) polymorphisms. 43 HFS patients and 207 healthy controls were genotyped and fasting plasma homocysteine (pHcy) concentrations were measured. The SNPs were genotyped using polymerase chain reaction (PCR) amplification followed by digestion with the restriction enzyme. The pHcy levels were not significantly different between HFS patients and controls. No association was detected between the SNPs in the selected genes and susceptibility to HFS. However, further study will be needed to confirm these findings.

Cerebellopontine angle epidermoid tumour presenting with bilateral gaze nystagmus.

Vestibular symptoms have been rarely described in cerebellopontine angle epidermoid tumours. We report a case of CPA epidermoid tumour presenting with subacute onset of vestibular symptoms such as vertigo, gait ataxia, and nystagmus masquerading as acute vestibular neuritis or central vertigo. The vestibular symptoms disappeared after excision of the tumour.

Endovascular treatment of intracranial vertebral artery dissections with stent placement or stent-assisted coiling.

BACKGROUND AND PURPOSE: Endovascular treatment with stent placement or stent-assisted coiling was recently introduced as an alternative to parent artery occlusion in intracranial vertebral artery dissections. We describe the efficacy and limitations of this method. METHODS: Fourteen patients with intracranial vertebral artery dissection were treated with stent placement (10 patients) or stent-assisted coiling (4 patients). Double overlapping stents were deployed in 4 of 10 patients with stent placement alone. Angiographic follow-up at 6 to 12 months was available in 13 patients. RESULTS: In 13 patients with dissecting aneurysm, immediate angiographic outcomes were complete occlusion (1 patient), nearly complete (2 patients), and incomplete (10 patients). Follow-up angiograms of 12 of these patients showed complete occlusion (6 patients) and incomplete (6 patients; 1 unstable and 5 stable). Complete occlusion rates in follow-up angiograms were superior in double stent placement (75%) or stent-assisted Guglielmi detachable coil (GDC) embolization to stent placement alone (0%). There were no instances of postprocedural ischemic attacks, new neurologic deficits, and no new minor or major strokes before patient discharge. On the modified Rankin scale applied in follow-up, all patients were assessed as functionally improved or of stable clinical status. CONCLUSIONS: Intracranial vertebral artery dissections were acceptably treated with stent placement or stent-assisted coiling, and the patency could be preserved at follow-up. However, the efficiency of stent placement alone for intracranial vertebral artery dissecting aneurysm was limited. Stent-assisted coil embolization or double stent placements are a viable alternative for complete occlusion of dissecting aneurysms.

Clipping vs coiling of posterior communicating artery aneurysms with third nerve palsy.

The authors investigated the evolution of third nerve palsy in patients with posterior communicating artery aneurysms who underwent coiling vs clipping. There was no statistical difference of complete third nerve palsy recovery in both treatments. Both techniques were of clinical benefit. Older age, diabetes, delayed interventions, and complete third nerve palsy at presentation indicated a poor prognosis for recovery.

Aneurysm in the penetrating artery of the distal middle cerebral artery presenting as intracerebral haemorrhage.

We are recording the first reported case of a 20-year-old man with an intracerebral haemorrhage due to a ruptured aneurysm, which arose from a penetrating artery of the distal middle cerebral artery (MCA; M4 segment). Excision of the aneurysm was successfully achieved via a right pterional approach. The follow-up angiogram demonstrated filling of the parent vessel and no residual aneurysm. This report illustrates the angiographical finding of a penetrating artery aneurysm of the distal MCA and summarizes the previous reports to discuss their pathological and clinical characteristics.