Mitochondrial DNA G13708A variation and multiple sclerosis: Is there an association?

BACKGROUND: Multiple sclerosis (MS) is considered a pathogenetic enigma. Recently, efforts to implicate genetics in human susceptibility to MS have identified an important role of mitochondrial DNA (mtDNA). G13708A is a common mtDNA variation associated with MS in specific populations. This study tested the hypothesis that the mtDNA G13708A variation is associated with MS in an Iranian population. MATERIALS AND METHODS: Blood samples were collected from 100 MS patients and 100 unrelated healthy controls. DNA was extracted using a salting-out method, followed by polymerase chain reaction (PCR) amplification. For assessment of restriction fragment length polymorphism (RFLP), PCR products were restricted by restriction enzyme Mva I. Thereafter, the restriction products were assessed by means of an ultraviolet (UV) transilluminator following electrophoresis with 3% agarose gel. Accuracy of the genotyping procedure was assessed by direct sequencing. RESULTS: The mtDNA G13708A variation was found in 17 cases (17%) and 19 controls (19%) (P=0.7, OR: 0.8, 95% CI: 0.3-1.9). CONCLUSION: The findings of the present study fail to support the hypothesis that the G13708A mtDNA variation is associated with MS in the selected Iranian population.

Angioplasty and stenting of symptomatic vertebral artery stenosis. Clinical and angiographic follow-up of 206 cases from Northwest Iran.

Percutaneous transluminal angioplasty (PTA) has recently become a noteworthy treatment option for significant stenosis involving the vertebral artery (VA) in selected patients. We conducted a prospective study to evaluate the efficacy, safety and mid-term follow up results of 206 cases received PTA with or without stent implant to treat their symptomatic atherosclerotic VA stenosis in all segments (V1-V4). In a prospective mono-arm trial from October 2008 to July 2012 in a single center, 239 lesions affecting the intra or extracranial VA (171 in V1, 17 in V2, 14 in V3, 21 in V4 and 16 in combined segments) were treated by PTA with or without stent implant. Non-disabling stroke patients who had failed conservative medical treatment and had angiographic evidence of >50% stenosis in the dominant VA with clinical signs and symptoms of VB stenosis were included in this study. They were mean followed for 13.15±5.24 months after treatment. Overall, 206 patients underwent the procedure. A stent was implemented in 199 patients (96.6%). The periprocedural complication rate was 7.2%. The procedural (technical) success rate was 97.6%. Of the total 239 lesions, 223 were treated with stent implant. Clinical success was achieved in all 206 symptomatic patients after the procedure. Restenosis occurred in 15.9% after a mean 10.8 (6-24) months. Of those, 63.1% and 34.2% had mild and moderate stenosis that was treated medically, whereas one case (2.6%) with severe restenosis underwent balloon angioplasty. No deaths occurred during the follow-up period. The follow-up complication rate was 6.3%. TIA occurred in 4.4%, a minor stroke in 1.4% and a major stroke in one patient. The overall patient event-free survival was 92.4%. These results demonstrate the safety and feasibility of PTA with or without stent implant, with a high technical success rate, a low complication rate, a low restenosis rate and durable clinical success in patients with symptomatic VA stenosis. This approach seems to improve patients' immediate and mid-term clinical results. Randomized controlled trials are necessary to further validate this treatment option.

Celiac disease and multiple sclerosis in the northwest of Iran.

OBJECTIVE: To compare the frequency of celiac disease (CD) in patients with multiple sclerosis (MS) and healthy controls using tissue transglutaminase IgA antibodies (anti-tTGA) as a screening tool. BACKGROUND: CD and MS are immune-mediated diseases, and it has been hypothesized that the genetic similarities between these conditions can predispose individuals to suffer from both. Data regarding this association are limited, particularly in Eastern countries. METHODS: One hundred clinically defined MS patients were randomly selected from Tabriz, northwest of Iran. The control group consisted of 121 age- and gender-matched healthy individuals. All subjects were screened with anti-tTGA. Total IgA was obtained for investigation of IgA deficiency. RESULTS: The mean age of MS patients (32 male and 68 female) was 33.06±8.79 years; the mean age of controls was 32.98±9.62 years. The mean expanded disability scale score (EDSS) for MS patients was 3.86±1.91. Approximately 78.5 % of MS patients suffered from a remitting relapsing type of MS. All subjects (MS patients and controls) were negative for anti-tTGA. IgA deficiency was demonstrated in 14 % of MS patients and 11 % of controls (p>0.1). No IgA-deficient subjects consented to undergo a duodenal mucosa biopsy. CONCLUSION: The present study failed to demonstrate a positive relationship between MS and CD. Therefore, we conclude that there is no basis for recommending the routine screening of MS sufferers for celiac disease (Ref. 23).

Treatment of progressive cerebral sinuses thrombosis with local thrombolysis.

Cerebral venous thrombosis (CVT) is a potentially serious disease, with nonspecific clinical symptoms and an unpredictable outcome. Despite adequate anticoagulation, a patient's clinical condition can rapidly deteriorate. The aim of this study was to evaluate the efficacy of local thrombolysis in these patients. Consecutive patients with progressive cerebral venous thrombosis between October 2008 and January 2011 were enrolled prospectively. Progressive CVT was defined as the persistence of neurologic findings (headache, blurred vision, and visual field defects) despite at least four days (or 48 hours in patients with involvement of more than one sinus) on full anticoagulation therapy with heparin and development of focal neurologic deficits or cortical hemorrhage. We excluded patients with large hematomas and predisposing malignancies like leukemia. All patients underwent local thrombolysis with 30 mg recombinant tissue plasminogen activator (rtPA). Overall, 26 patients were enrolled with a mean age of 35.5 years (range 18 to 56 years). Six patients (23%) were male and twenty patients (77%) were female. The most common presenting feature was headache and the most common neurologic finding was papilledema, which was present in all patients. Eighty-five percent of women had a history of oral contraceptive pill consumption. Successful recanalization was achieved in all patients except one (96.2%). Neurological examinations and follow-up assessments were based on a modified Rankin scale (mRS). Favorable outcome and recovery was defined as a mRS score of 0-1. Follow-up assessments at the third week showed that 25 out of 26 recovered, with 18 having a mRS score of 0 and 7 with a mRS score of 1. There were no procedure-related neurological complications. Our results show that local thrombolysis is a safe and effective treatment modality for patients suffering from progressive CVT.

Vertebral artery orifice stenosis: a report of 43 cases from northwest iran treated with angioplasty and stenting.

More than one quarter of all transient ischemic attacks (TIA's) and ischemic strokes involve tissue supplied by the vertebrobasilar (VB) circulation. Vertebral artery stenotic lesion, particularly at the origin of the vertebral artery, is not uncommon but it is a less studied area. Here we present our endovascular treatment experience in a group of patients with vertebral artery orifice stenosis. We enrolled a group of patients with vertebral artery orifice stenosis who presented with confirmed posterior circulation stroke. Vertebrobasilar insufficiency syndrome was confirmed by imaging studies and clinical findings. Vertebral artery stenosis diagnosed by CT or MR Angiography and confirmed by Conventional and digital subtraction angiography (DSA). Angiography was performed by using of femoral or radial artery approach. From October 2008 to January 2010, forty-three consecutive patients (69.8% men) underwent stent placement for symptomatic vertebral artery orifice stenosis. Mean degree of stenosis was 70.45 +/- 7.455 percent and mean age was 71.65 +/- 7.743 years . In the 22 patients (22/43, 51.16%) stenosis were in left side. In the thirty patients (30/43, 69.6%) there was evidence of atherosclerotic disease in the internal carotid artery and in the 23% contra lateral vertebral artery was involved. There were five different cases with left renal artery stenosis especially in the men with left vertebral artery stenosis. Initial technical success rate was 100%. No cerebrovascular complications or embolic events occurred. Six months control angiography follow-up revealed one patient with stent occlusion and moderate (40%) restenosis in the another patient. According to our finding angioplasty and stenting for vertebral artery orifice stenosis is safe and effective. Patients with vertebral artery orifice disease frequently have coexistent atherosclerotic stenosis in the other major extracranial arteries including carotid and renal arteries.

Relatively higher norms of blood flow velocity of major intracranial arteries in North-West Iran.

BACKGROUND: Transcranial Doppler (TCD) is a noninvasive, less expensive and harmless hemodynamic study of main intracranial arteries. The aim of this study was to assess normal population values of cerebral blood flow velocity and its variation over age and gender in a given population. FINDINGS: Eighty healthy volunteers including 40 people with an age range of 25-40 years (group1) and 40 persons with an age range of 41-55 years (group2) were studied. In each group 20 males and 20 females were enrolled. Peak systolic, end diastolic and mean velocities of nine main intracranial arteries were determined using TCD. Mean age of the studied volunteers was 31.6 +/- 4.50 years in group one and 47.2 +/- 4.3 years in group two. Mean age among males was 40 years and among females it was 39. Mean blood flow velocity in middle, anterior and posterior cerebral arteries, vertebral and basilar arteries was 60 +/- 8, 52 +/- 9, 42 +/- 6, 39 +/- 8 and 48 +/- 8 cm/sec respectively. Cerebral blood flow velocities among females were relatively higher than males. Cerebral blood flow velocity of left side was relatively higher than right side. CONCLUSION: Compared to previous studies, cerebral blood flow velocity in this population was relatively higher.