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Ring finger protein 213 c.14576G>A mutation is not involved in internal carotid artery and middle cerebral artery dysplasia

ABSTRACT: The ring finger protein 213 (RNF213) susceptibility gene has been detected in more than 80% of Japanese and Korean patients with moyamoya disease (MMD), a bilateral internal carotid artery (ICA) occlusion. Furthermore, RNF213 has been detected in more than 20% of East Asians with atherosclerotic ICA stenosis. In this study, we evaluated the frequency of RNF213 mutations in congenital occlusive lesions of the ICA system. This case series was conducted jointly at four university hospitals. Patients with a family history of MMD, quasi-MMD, or related diseases were excluded. Ten patients were diagnosed with abnormal ICA or middle cerebral artery (MCA) angiogenesis. Patients with neurofibromatosis were excluded. Finally, nine patients with congenital vascular abnormalities were selected; of these, five had ICA deficiency and four had twig-like MCA. The RNF213 c.14576G > A mutation was absent in all patients. Therefore, the RNF213 c.14576G > A mutation may not be associated with ICA and MCA congenital dysplasia—rare vascular anomalies making it difficult to study a large number of cases. However, an accumulation of cases is required for accurate determination. The results of this study may help differentiate congenital vascular diseases from MMD.

SUBMITTER: Murai Y

PROVIDER: S-EPMC8589854 | biostudies-literature |

REPOSITORIES: biostudies-literature

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Project description:PURPOSE:Cerebral blood flow (CBF) and glucose metabolism are important and significant factors in ischaemic cerebrovascular disease. The objective of this study was to use quantitative hybrid PET/MR to evaluate the effects of surgery treatment on the symptomatic unilateral internal carotid artery/middle cerebral artery steno-occlusive disease. METHODS:Fifteen patients diagnosed with ischaemic cerebrovascular disease were evaluated using a hybrid TOF PET/MR system (Signa, GE Healthcare). The CBF value measured by arterial spin labelling (ASL) and the standardized uptake value ratio (SUVR) measured by 18F-FDG PET were obtained, except for the infarct area and its contralateral side, before and after bypass surgery. The asymmetry index (AI) was calculated from the CBF and SUVR of the ipsilateral and contralateral cerebral hemispheres, respectively. The ?CBF and ?SUVR were calculated as the percent changes of CBF and SUVR between before and after surgery, and paired t tests were used to determine whether a significant change occurred. Spearman's rank correlation was also used to compare CBF with glucose metabolism in the same region. RESULTS:The analysis primarily revealed that after bypass surgery, a statistically significant increase occurred in the CBF on the affected side (P < 0.01). The postprocedural SUVR was not significantly higher than the preprocedural SUVR (P > 0.05). However, the postprocedural AI values for CBF and SUVR were significantly lower after surgery than before surgery (P < 0.01). A significant correlation was found between the AI values for preoperative CBF and SUVR on the ipsilateral hemisphere (P < 0.01). CONCLUSIONS:The present study demonstrates that a combination of ASL and 18F-FDG PET could be used to simultaneously analyse changes in patients' cerebral haemodynamic patterns and metabolism between before and after superficial temporal artery-middle cerebral artery (STA-MCA) bypass surgery. This therefore represents an essential tool for the evaluation of critical haemodynamic and metabolic status in patients with symptomatic unilateral ischaemic cerebrovascular disease.

Project description:BackgroundIt is well known that intracranial aneurysms can be associated to fibromuscular dysplasia (FMD). Nevertheless, it is not clear the best treatment strategy when there is an association of giant symptomatic cavernous carotid aneurysm with extensive cervical internal carotid artery (ICA) FMD.Case descriptionWe present the case of 63 year-old right-handed female with hypothyroidism, 1 month history of right-sided pulsatile headache and visual disturbances with feeling of fullness sensation and blurry vision. Her neurological exam showed partial right oculomotor nerve palsy with mild ptosis, asymmetric pupils (right 5 mm and left 3mm, both reactive), and mild exotropia, normal visual acuity. Computed tomography angiogram and conventional angiogram showed 2.5 × 2.6 × 2.6 cm non-ruptured aneurysm arising from cavernous segment of the right ICA. She had right hypoplastic posterior communicant artery, and collateral flow through anterior communicant artery during balloon test occlusion and the presence of right cervical ICA FMD. The patient was started on aspirin. After lengthy discussion of treatment options in our neurovascular department, between observations, endovascular treatment with flow diverter device, or high flow bypass, recommendation was to perform high flow bypass and patient consented for the procedure. We performed right-sided pterional trans-sylvian microsurgical approach and right neck dissection at common carotid bifurcation under electrophysiology monitoring (somatosensory evoked potentials and electroencephalography); while vascular surgery department assisted with the radial artery graft harvesting. The radial artery graft was passed through preauricular tunnel, cranially was anastomosed at superior trunk of middle cerebral artery, and caudally at external carotid artery (Video). Intraoperative angiogram showed adequate bypass patency and lack of flow within aneurysm. The patient was extubated postoperatively and discharged home with aspirin in postoperative day 5. Improvement on oculomotor deficit was complete 3 weeks after surgery.ConclusionNowadays, endovascular therapy can manage small to large cavernous ICA aneurysms even if associated to FMD, although giant symptomatic cavernous carotid aneurysms impose a different challenge. Here, we present the management for the association of symptomatic giant cavernous ICA aneurysm and cervical ICA FMD with high flow bypass. We consider important to keep the skills in the cerebrovascular neurosurgeon armamentarium for the safe management of these lesions.

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Ring finger protein 213 c.14576G>A mutation is not involved in internal carotid artery and middle cerebral artery dysplasia

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