Background: Collagens are the main components of the extracellular matrix of intervertebral discs. The genetic mutations in collagen genes could potentially play a causal role in pathophysiology of intervertebral disc degeneration (IVDD). In this study, we investigate the association of COL1A1 and COL9A2 single nucleotide polymorphisms (SNPs) with IVDD. Material and Methods: ninety-six Iranian IVDD patients and 94 controls matched for age and sex were included. 5 cc of peripheral blood samples were obtained for DNA extraction using the Phenol-Chloroform method. The primers for SNPs COL1A1 rs909102 and COL9A2 were designed based on the TaqMan protocol and genotyped by real-time PCR with TaqMan. Results: The 'T' allele, 'CC' and 'TT' genotypes of COL1A1 rs909102 were more common among patients, however not significantly. Despite the similar allele distribution of COL9A2 rs137853213 in patients and controls, the homozygote genotypes were more frequent among patients, though this was not significant either. Conclusion: The allele and genotype distributions of COL1A1 rs909102 and COL9A2 rs137853213 SNPs were not significantly associated with IVDD in an Iranian population.
Pial arteriovenous fistulas (pAVF) are rare vascular lesions consisting of one or more arterial connections to a single venous channel without any intervening nidus of vessels or capillaries.Case 1: A 65-year-old woman with a complaint of headache and left hand paresthesia was referred to us. Magnetic resonance imaging showed a large saccular lesion with signal void in the posterior part of the right sylvian fissure and catheter angiography showed a giant venous aneurysm fed by one branch of the middle cerebral artery (MCA) and draining into the vein of Trolard.Case 2: A 12-year-old boy was transferred to our hospital with a history of sudden loss of consciousness and hemiplegia. Brain computed tomography revealed a massive hemorrhagic mass in the right hemisphere and cerebral angiography showed a pAVF with a large aneurysmal varix, which was fed by multiple branches of the right MCA and draining into the superior sagittal sinus.Both patients underwent craniotomy and after ligation of vascular connections, aneurysmal varices were removed completely. Surgical resection can be a safe method for treatment of pAVFs, particularly in those with large varices.
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