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1.
Neuroradiology ; 66(4): 631-641, 2024 Apr.
Article in English | MEDLINE | ID: mdl-38381145

ABSTRACT

PURPOSE: Our purpose was to assess the efficacy and safety of the pRESET LITE stent retriever (Phenox, Bochum, Germany), designed for medium vessel occlusion (MeVO) in acute ischemic stroke (AIS) patients with a primary MeVO. METHODS: We performed a retrospective analysis of the MAD MT Consortium, an integration of prospectively maintained databases at 37 academic institutions in Europe, North America, and Asia, of AIS patients who underwent mechanical thrombectomy with the pRESET LITE stent retriever for a primary MeVO. We subcategorized occlusions into proximal MeVOs (segments A1, M2, and P1) vs. distal MeVOs/DMVO (segments A2, M3-M4, and P2). We reviewed patient and procedural characteristics, as well as angiographic and clinical outcomes. RESULTS: Between September 2016 and December 2021, 227 patients were included (50% female, median age 78 [65-84] years), of whom 161 (71%) suffered proximal MeVO and 66 (29%) distal MeVO. Using a combined approach in 96% of cases, successful reperfusion of the target vessel (mTICI 2b/2c/3) was attained in 85% of proximal MeVO and 97% of DMVO, with a median of 2 passes (IQR: 1-3) overall. Periprocedural complications rate was 7%. Control CT at day 1 post-MT revealed a hemorrhagic transformation in 63 (39%) patients with proximal MeVO and 24 (36%) patients with DMVO, with ECASS-PH type hemorrhagic transformations occurring in 3 (1%) patients. After 3 months, 58% of all MeVO and 63% of DMVO patients demonstrated a favorable outcome (mRS 0-2). CONCLUSION: Mechanical thrombectomy using the pRESET LITE in a combined approach with an aspiration catheter appears effective for primary medium vessel occlusions across several centers and physicians.


Subject(s)
Brain Ischemia , Endovascular Procedures , Ischemic Stroke , Stroke , Aged , Female , Humans , Male , Brain Ischemia/complications , Ischemic Stroke/etiology , Retrospective Studies , Stents , Stroke/etiology , Thrombectomy , Treatment Outcome , Aged, 80 and over
2.
Neurosurgery ; 2024 Feb 21.
Article in English | MEDLINE | ID: mdl-38380947

ABSTRACT

BACKGROUND AND OBJECTIVES: Recent molecular analyses have shown that the driver genetic mutations of meningiomas were associated with the anatomic location. Among these, POLR2A mutation is common among lesions in the skull base, mainly in the cerebellopontine angle (CPA). The objective of this study was to investigate the efficacy of POLR2A mutation as a prognostic marker for CPA meningiomas. METHODS: We retrospectively analyzed the clinical data of 70 patients who had World Health Organization grade I CPA meningiomas. Somatic DNA was analyzed by Sanger sequencing and microsatellite array to examine for NF2, AKT1, KLF4, SMO, and POLR2A mutations and 22q loss. Genetic and clinical parameters were analyzed to identify the factors related with tumor recurrence. RESULTS: We detected clearly the clinical features of the CPA cases with POLR2A mutation. Compared with cases without POLR2A mutation, cases with POLR2A mutation had more meningothelial type (P = 6.9 × 10-4), and higher rate of recurrence (P = .04). We found that the poor prognostic factors associated with the recurrence of CPA meningiomas were POLR2A mutation (P = .03, hazard ratio [HR] 9.38, 95% CI 1.26-70.0) and subtotal resection (STR) (P = 5.1 × 10-4, HR 63.1, 95% CI 6.09-655.0). In addition, in the group that underwent STR, POLR2A mutation was a poor prognostic factor associated with tumor recurrence (P = .03, HR 11.1, 95% CI 1.19-103.7). CONCLUSION: POLR2A mutation and STR were the poor prognostic markers associated with the recurrence of CPA meningioma. For CPA meningioma cases that underwent STR, only POLR2A mutation was a poor prognostic factor. Detecting POLR2A mutation may be a cost-effective, easy, and useful marker for prognostication.

3.
Eur Stroke J ; 9(2): 328-337, 2024 Jun.
Article in English | MEDLINE | ID: mdl-38409796

ABSTRACT

BACKGROUND: Mechanical thrombectomy (MT) has revolutionized the treatment of acute ischemic stroke (AIS) due to large vessel occlusion (LVO), but its efficacy and safety in medium vessel occlusion (MeVO) remain less explored. This multicenter, retrospective study aims to investigate the incidence and clinical outcomes of vessel perforations (confirmed by extravasation during an angiographic series) during MT for AIS caused by MeVO. METHODS: Data were collected from 37 academic centers across North America, Asia, and Europe between September 2017 and July 2021. A total of 1373 AIS patients with MeVO underwent MT. Baseline characteristics, procedural details, and clinical outcomes were analyzed. RESULTS: The incidence of vessel perforation was 4.8% (66/1373). Notably, our analysis indicates variations in perforation rates across different arterial segments: 8.9% in M3 segments, 4.3% in M2 segments, and 8.3% in A2 segments (p = 0.612). Patients with perforation had significantly worse outcomes, with lower rates of favorable angiographic outcomes (TICI 2c-3: 23% vs 58.9%, p < 0.001; TICI 2b-3: 56.5% vs 88.3%, p < 0.001). Functional outcomes were also worse in the perforation group (mRS 0-1 at 3 months: 22.7% vs 36.6%, p = 0.031; mRS 0-2 at 3 months: 28.8% vs 53.9%, p < 0.001). Mortality was higher in the perforation group (30.3% vs 16.8%, p = 0.008). CONCLUSION: This study reveals that while the occurrence of vessel perforation in MT for AIS due to MeVO is relatively rare, it is associated with poor functional outcomes and higher mortality. The findings highlight the need for increased caution and specialized training in performing MT for MeVO. Further prospective research is required for risk mitigation strategies.


Subject(s)
Ischemic Stroke , Thrombectomy , Humans , Ischemic Stroke/surgery , Ischemic Stroke/epidemiology , Ischemic Stroke/therapy , Male , Retrospective Studies , Female , Aged , Middle Aged , Incidence , Thrombectomy/adverse effects , Thrombectomy/methods , Treatment Outcome , Aged, 80 and over
4.
Eur Stroke J ; 9(1): 114-123, 2024 Mar.
Article in English | MEDLINE | ID: mdl-37885243

ABSTRACT

INTRODUCTION: First pass effect (FPE), achievement of complete recanalization (mTICI 2c/3) with a single pass, is a significant predictor of favorable outcomes for endovascular treatment (EVT) in large vessel occlusion stroke (LVO). However, data concerning the impact on functional outcomes and predictors of FPE in medium vessel occlusions (MeVO) are scarce. PATIENTS AND METHODS: We conducted an international retrospective study on MeVO cases. Multivariable logistic modeling was used to establish independent predictors of FPE. Clinical and safety outcomes were compared between the two study groups (FPE vs non-FPE) using logistic regression models. Good outcome was defined as modified Rankin Scale 0-2 at 3 months. RESULTS: Eight hundred thirty-six patients with a final mTICI ⩾ 2b were included in this analysis. FPE was observed in 302 patients (36.1%). In multivariable analysis, hypertension (aOR 1.55, 95% CI 1.10-2.20) and lower baseline NIHSS score (aOR 0.95, 95% CI 0.93-0.97) were independently associated with an FPE. Good outcomes were more common in the FPE versus non-FPE group (72.8% vs 52.8%), and FPE was independently associated with favorable outcome (aOR 2.20, 95% CI 1.59-3.05). 90-day mortality and intracranial hemorrhage (ICH) were significantly lower in the FPE group, 0.43 (95% CI, 0.25-0.72) and 0.55 (95% CI, 0.39-0.77), respectively. CONCLUSION: Over 2/3 of patients with MeVOs and FPE in our cohort had a favorable outcome at 90 days. FPE is independently associated with favorable outcomes, it may reduce the risk of any intracranial hemorrhage, and 3-month mortality.


Subject(s)
Brain Ischemia , Stroke , Humans , Brain Ischemia/therapy , Retrospective Studies , Thrombectomy , Treatment Outcome , Intracranial Hemorrhages/etiology
5.
NMC Case Rep J ; 10: 191-195, 2023.
Article in English | MEDLINE | ID: mdl-37465248

ABSTRACT

We report a rare case of isolated internal carotid artery occlusion complicated by central retinal artery occlusion that was successfully treated with mechanical thrombectomy for internal carotid artery occlusion. A 59-year-old man visited the emergency room because of right monocular blindness. Magnetic resonance imaging showed multiple acute small embolic infarctions in the right frontal lobe, and magnetic resonance angiography revealed right internal carotid artery occlusion without the associated occlusion of the circle of Willis, which indicates the patency of the anterior and middle cerebral arteries. An electrocardiogram showed atrial fibrillation. Therefore, we performed mechanical thrombectomy with a stent retriever under continuous manual aspiration with a balloon-guiding catheter and confirmed complete recanalization, anterograde flow in the right ophthalmic artery, and retinal brush. The procedure was completed without complications, and the patient noticed an improvement in visual acuity immediately after the procedure. When a patient with atrial fibrillation complains of monocular blindness, it is important to consider internal carotid artery occlusion due to cardioembolism, to perform an examination promptly, and to consider early treatment, including mechanical thrombectomy.

6.
Interv Neuroradiol ; : 15910199231182535, 2023 Jun 12.
Article in English | MEDLINE | ID: mdl-37309174

ABSTRACT

BACKGROUND: The supreme anterior connecting artery (SAConnA) is an exceedingly rare anatomical variant. This artery may interconnect bilateral anterior cerebral arteries (ACAs), yet its existence and clinical implications are scarcely discussed in the literature. CASE DESCRIPTION: A 60-year-old man with no significant past medical or family history presented to our emergency department. He exhibited right homonymous hemianopsia and Gerstmann's syndrome. Cranial computed tomography indicated a left parietal lobar hemorrhage, and digital subtraction angiography revealed a flow-related aneurysm in the anterior communicating artery, with the arteriovenous malformation (AVM) receiving blood supply from the anterior, middle, and posterior cerebral arteries. Notably, the angiography also disclosed the presence of a SAConnA. We adopted a treatment approach of staged embolizations followed by resection. During the second session, the SAConnA was utilized for the embolization of feeding arteries within the ACA system. CONCLUSIONS: This case demonstrates that SAConnA can be associated with AVMs and can serve as an access route during AVM embolization. SAConnA may be a remnant artery interconnecting bilateral ACAs formed during early embryogenesis.

7.
Interv Neuroradiol ; : 15910199221148798, 2023 Jun 22.
Article in English | MEDLINE | ID: mdl-37350043

ABSTRACT

OBJECTIVE: Proximal internal carotid artery (ICA) ligation with high-flow bypass is an important vascular reconstructive technique for giant ICA aneurysms or skull base tumors involving the ICA to control intraoperative bleeding. Retrograde or collateral blood flow occasionally remains postoperatively and requires complete internal trapping. Although transgraft internal trapping is one of the options, there are few reports on transgraft treatment. The purpose of this study was to report our experience of transgraft internal trapping and evaluate the safety and efficacy of this procedure. METHODS: We retrospectively selected patients who underwent transgraft internal trapping after proximal ICA ligation with high-flow bypass between January 2012 and June 2020. RESULTS: We encountered five cases of this procedure (one aneurysm case and four tumor cases). The median duration between the bypass and transgraft internal trapping was 12 days. In four out of five cases, a guiding catheter could be placed in the graft. No disruption of the anastomosis was observed. Transgraft internal trapping was achieved in all five cases with detachable coils. All treatments could be completed safely without any adverse events, including ischemic and hemorrhagic complications. CONCLUSIONS: Transgraft internal trapping after proximal ICA ligation with high-flow bypass may be an option for preventing residual retrograde blood flow.

8.
Transl Stroke Res ; 14(3): 322-333, 2023 06.
Article in English | MEDLINE | ID: mdl-35701560

ABSTRACT

The genetic background of intracranial artery stenosis (ICAS), a major cause of ischemic stroke, remains elusive. We performed the world's first genome-wide association study (GWAS) of ICAS using DNA samples from Japanese subjects, to identify the genetic factors associated with ICAS and their correlation with clinical features. We also conducted a phenome-wide association study (PheWAS) of the top variant identified via GWAS to determine its association with systemic disease. The GWAS involved 408 patients with ICAS and 349 healthy controls and utilized an Asian Screening Array of venous blood samples. The PheWAS was performed using genotypic and phenotypic data of the Biobank Japan Project, which contained information on 46 diseases and 60 quantitative trait data from > 150,000 Japanese individuals. The GWAS revealed that the East Asian-specific functional variant of RNF213, rs112735431 (c.14429G > A, p.Arg4810Lys), was associated with ICAS (odds ratio, 12.3; 95% CI 5.5 to 27.5; P = 7.8 × 10-10). Stratified analysis within ICAS cases demonstrated that clinical features of those with and without the risk allele were different. PheWAS indicated that high blood pressure and angina were significantly associated with RNF213 rs112735431. The first GWAS of ICAS, which stratifies subpopulations within the ICAS cases with distinct clinical features, revealed that RNF213 rs112735431 was the most significant variant associated with ICAS. Thus, RNF213 rs112735431 shows potential as an important clinical biomarker that characterizes pleiotropic risk in various vascular diseases, such as blood pressure and angina, thereby facilitating personalized medicine for systemic vascular diseases in East Asian populations.


Subject(s)
Genome-Wide Association Study , Vascular Diseases , Humans , Genetic Predisposition to Disease/genetics , Constriction, Pathologic/genetics , Polymorphism, Single Nucleotide/genetics , Arteries , Adenosine Triphosphatases/genetics , Ubiquitin-Protein Ligases/genetics
9.
Neurol Med Chir (Tokyo) ; 63(1): 17-22, 2023 Jan 15.
Article in English | MEDLINE | ID: mdl-36223949

ABSTRACT

Middle meningeal artery embolization (MMAE) for chronic subdural hematoma (CSDH) is a novel, minimally invasive treatment. The indications and treatment practices for MMAE are variable and remain controversial. This study aimed to evaluate a strategy involving sequential MMAE after burr hole surgery for treating recurrent CSDH. We performed a retrospective analysis of data from consecutive patients who had undergone MMAE using liquid embolic agents within approximately 2 weeks after burr hole surgery for recurrent CSDH from September 2020 to March 2022. We analyzed patient characteristics, procedural details, CSDH recurrence after MMAE, surgical rescue, and complications. Six of the nine patients who underwent MMAE for CSDH recurrence were male, and the median age was 85 (range, 70-94) years. Five of the nine patients were being administered antithrombotic agents. The median duration between the burr hole surgery and MMAE procedure was 10 (range, 3-25) days. Anterior and posterior convexity branches were targeted for embolization using low-concentration N-butyl cyanoacrylate (NBCA), and the abnormal vascular networks with a cotton wool appearance disappeared after embolization in all cases. The NBCA distribution was observed by high-resolution computed tomography during the procedure; in three of nine cases, the NBCA penetrated not only the MMA but also the inner membrane. No recurrence, surgical rescue, or complications were observed in any patient during the median follow-up period of 3 months. As a minimally invasive treatment for recurrent CSDH, sequential MMAE after burr hole surgery may be a safe and effective option for preventing recurrence.


Subject(s)
Embolization, Therapeutic , Enbucrilate , Hematoma, Subdural, Chronic , Humans , Male , Aged, 80 and over , Female , Retrospective Studies , Hematoma, Subdural, Chronic/diagnostic imaging , Hematoma, Subdural, Chronic/surgery , Meningeal Arteries/diagnostic imaging , Meningeal Arteries/surgery , Trephining , Craniotomy/methods , Embolization, Therapeutic/methods
10.
Angiogenesis ; 26(1): 37-52, 2023 02.
Article in English | MEDLINE | ID: mdl-35902510

ABSTRACT

Orbital cavernous venous malformation (OCVM) is a sporadic vascular anomaly of uncertain etiology characterized by abnormally dilated vascular channels. Here, we identify a somatic missense mutation, c.121G > T (p.Gly41Cys) in GJA4, which encodes a transmembrane protein that is a component of gap junctions and hemichannels in the vascular system, in OCVM tissues from 25/26 (96.2%) individuals with OCVM. GJA4 expression was detected in OCVM tissue including endothelial cells and the stroma, through immunohistochemistry. Within OCVM tissue, the mutation allele frequency was higher in endothelial cell-enriched fractions obtained using magnetic-activated cell sorting. Whole-cell voltage clamp analysis in Xenopus oocytes revealed that GJA4 c.121G > T (p.Gly41Cys) is a gain-of-function mutation that leads to the formation of a hyperactive hemichannel. Overexpression of the mutant protein in human umbilical vein endothelial cells led to a loss of cellular integrity, which was rescued by carbenoxolone, a non-specific gap junction/hemichannel inhibitor. Our data suggest that GJA4 c.121G > T (p.Gly41Cys) is a potential driver gene mutation for OCVM. We propose that hyperactive hemichannel plays a role in the development of this vascular phenotype.


Subject(s)
Gain of Function Mutation , Vascular Malformations , Humans , Endothelial Cells , Gap Junctions/genetics , Mutation , Veins , Vascular Malformations/metabolism
11.
Turk Neurosurg ; 32(5): 866-871, 2022.
Article in English | MEDLINE | ID: mdl-35929034

ABSTRACT

AIM: To present a substitute strategy for clipping: coil embolization of the ruptured aneurysm followed by intentional, staged clipping. CASE DESCRIPTION: We treated five cases of ruptured intracranial aneurysms with branches arising from the neck. The mean aneurysm diameter was 4.4 mm. In the acute rupture phase, coiling was performed without adjunctive endovascular techniques with intentional preservation of the neck in all cases. To treat recurrence during follow-up, the previously coiled aneurysm was clipped, which did not occasion any complications. Postoperative imaging showed completely obliterated aneurysms and preserved branches. No rebleeding occurred during the interval between coiling and clipping, and no rebleeding or recurrence occurred after clipping. No treatment-related complications occurred after coiling and clipping. CONCLUSION: This two-stage strategy may be effective for hemostasis and branch preservation for small- and medium-sized ruptured aneurysms with a branch arising from the neck. This intentional two-stage strategy can be a substitute strategy for clipping in the acute rupture phase with an acceptable outcome if the patient cannot undergo clipping as the first-line treatment.


Subject(s)
Aneurysm, Ruptured , Embolization, Therapeutic , Endovascular Procedures , Intracranial Aneurysm , Subarachnoid Hemorrhage , Aneurysm, Ruptured/diagnostic imaging , Aneurysm, Ruptured/surgery , Embolization, Therapeutic/methods , Endovascular Procedures/methods , Humans , Intracranial Aneurysm/diagnostic imaging , Intracranial Aneurysm/surgery , Subarachnoid Hemorrhage/diagnostic imaging , Subarachnoid Hemorrhage/etiology , Subarachnoid Hemorrhage/surgery , Treatment Outcome
12.
World Neurosurg ; 166: e980-e985, 2022 10.
Article in English | MEDLINE | ID: mdl-35964905

ABSTRACT

BACKGROUND: Endovascular mechanical thrombectomy (MT) has now evolved to become the standard treatment for acute ischemic stroke due to large vessel occlusion. Arterial perforation is a potential complication of MT, and the risk of this event during blind crossing the occlusion site has been elucidated. The intracranial arterial system shows morphological structural symmetry, so we investigated the utility of the bilateral symmetry of the proximal middle cerebral artery (MCA) as a preprocedural evaluation to predict hidden running course distal to the thrombus. METHODS: This study retrospectively analyzed 191 consecutive patients (mean age, 67.5 ± 15.5 years; 100 women) who underwent time-of-flight-magnetic resonance angiography in our institution. Four landmarks of the MCA were assessed: division pattern, early branching pattern, length, and course pattern. Each geometric property was compared between cerebral hemispheres. Frequencies of symmetry and symmetry breaking were assessed. RESULTS: In 91% (bifurcation type, 87%; trifurcation type, 4%), branching patterns of the left and right M1 were symmetrical. Early frontal and/or temporal branches were observed in 31%, and the presence/absence of early branches was symmetrical in 70% cases. In 19%, M1 was classified as short M1, and classifications were identical between hemispheres in 74%. Running course of the M1 was symmetrical in 63%. Two or more parameters were symmetrical in 181 cases (95%). CONCLUSIONS: The symmetry of bilateral M1-2 structures was demonstrated in most cases from the perspectives of 4 parameters. The MCA symmetry can predict the running course of the MCA before crossing the occlusion site and shows potential benefits for neurointerventionalists.


Subject(s)
Ischemic Stroke , Stroke , Aged , Aged, 80 and over , Cerebral Angiography , Female , Humans , Infarction, Middle Cerebral Artery/complications , Infarction, Middle Cerebral Artery/diagnostic imaging , Infarction, Middle Cerebral Artery/surgery , Middle Aged , Middle Cerebral Artery/diagnostic imaging , Middle Cerebral Artery/surgery , Pilot Projects , Retrospective Studies , Stroke/therapy , Thrombectomy , Treatment Outcome
13.
Sci Rep ; 12(1): 9543, 2022 06 09.
Article in English | MEDLINE | ID: mdl-35681071

ABSTRACT

Regardless of treatment, the clinical progression of neurofibromatosis type 2 (NF2), particularly in terms of hearing, swallowing, and gait, tend to worsen throughout the patients' lives. We performed a retrospective analysis of functional outcomes in Japanese NF2 patients to predict their functional prognosis. We analyzed genotype-phenotype correlation based on genetic data from a cohort of 57 patients with a mean follow-up of 14.5 ± 6.0 years. Their functional outcomes, including hearing, swallowing, and ambulation, were reviewed. Performing a targeted deep sequencing, germline NF2 mutations were identified in 28 patients (49.1%), and mosaic NF2 was identified in 20 patients (20, 35.0%). The functional preservation period and outcome differed significantly depending on clinical/genetic factors. Among these factors, "Truncating", "Mosaic", and "Age of symptom onset ≥ 25" had the most significant effects on functional disability. By applying a combination of an NF2 mutation type/location, and age of symptom onset, we classified different degrees of functional preservation and progression, schwannoma growth rate and total interventions per year per patient. The prediction of detailed functional outcomes in NF2 patients can plan better strategies for life-long disease management and social integration.


Subject(s)
Neurofibromatosis 2 , Genetic Association Studies , High-Throughput Nucleotide Sequencing , Humans , Neurofibromatosis 2/genetics , Prognosis , Retrospective Studies
14.
Acta Neuropathol Commun ; 10(1): 76, 2022 05 15.
Article in English | MEDLINE | ID: mdl-35570314

ABSTRACT

NF2 alteration is the most commonly-found genetic abnormality in meningiomas and is known to initiate events for aggressive-type meningiomas. Whereas the prognosis of meningiomas differs depending on their epigenomic/transcriptomic profile, the effect of NF2 alteration on the prognosis of benign meningiomas is not fully elucidated. This study aimed to probe the importance of NF2 alteration in prognosis of WHO grade I meningiomas. A long-term retrospective follow-up (5.3 ± 4.5 years) study involving 281 consecutive WHO grade I meningioma patients was performed. We assessed tumour recurrence in correlation with extent of resection (EOR), histopathological findings, tumour location, and NF2 alteration. "NF2 meningioma" was defined as meningiomas with presence of NF2 mutation and/or 22q loss. Overall, NF2 meningioma per se was not a predictor of prognosis in the whole cohort; however, it was a predictor of recurrence in supratentorial meningiomas, together with EOR and Ki-67. In a striking contrast, NF2 meningioma showed a better prognosis than non-NF2 meningioma in infratentorial lesion. Supratentorial NF2 meningiomas had higher Ki-67 and forkhead box protein M1 expression than those of others, possibly explaining the worse prognosis in this subtype. The combination of NF2 alteration, high Ki-67 and supratentorial location defines subgroup with the worst prognosis among WHO grade I meningiomas. Clinical connotation of NF2 alteration in terms of prognosis of WHO grade I meningioma differs in an opposite way between supratentorial and infratentorial tumors. Integrated anatomical, histopathological, and genomic classifications will provide the best follow-up schedule and proactive measures.


Subject(s)
Meningeal Neoplasms , Meningioma , Neurofibromin 2 , Humans , Ki-67 Antigen , Meningeal Neoplasms/genetics , Meningeal Neoplasms/pathology , Meningeal Neoplasms/surgery , Meningioma/genetics , Meningioma/pathology , Meningioma/surgery , Neurofibromin 2/genetics , Prognosis , Retrospective Studies
15.
NMC Case Rep J ; 9: 69-72, 2022.
Article in English | MEDLINE | ID: mdl-35493537

ABSTRACT

Posterior inferior cerebellar artery (PICA) variations are well recognized; however, their mechanisms have not been well understood. Primitive lateral basilovertebral anastomosis (PLBA) was described in 1948 by Padget and is one of the embryological transient longitudinal channels in the hindbrain. This study reports a PICA aneurysm associated with PLBA. A 48-year-old man presented with subarachnoid hemorrhage. Cerebral angiography showed a 3.6-mm fusiform aneurysm with a bleb of the left PICA just at the origin of the PICA from the vertebral artery. Furthermore, a direct anterior inferior cerebellar artery (AICA)-PICA anastomosis parallel to the basilar artery was revealed. This direct anastomosis between the AICA and PICA is explained by the partial persistence of PLBA. Variations in the three cerebellar arteries and vertebrobasilar junction can be caused by persistence of PLBA.

16.
Transl Stroke Res ; 13(3): 410-419, 2022 06.
Article in English | MEDLINE | ID: mdl-34716882

ABSTRACT

The relationship between RNF213 c.14429G > A (p.Arg4810Lys) heterozygous variants and clinical manifestation in patients with Moyamoya disease (MMD) remains unclear. We performed a retrospective cohort analysis to clarify the genotype-phenotype correlation of this RNF213 hotspot variant in MMD patients, especially between wild-type (GG) and heterozygous (GA) genotypes. Clinical and genetic data were obtained from patients diagnosed with MMD in our institutions between October 2011 and November 2020. Clinical data included age, sex, neurological status at diagnosis, medical history, smoking history, alcohol intake, and family history. Of the 225 enrolled patients, 160 (71.1%) were symptomatic, 3 (1.3%) had the homozygous variant, and 149 (66.2%) had the heterozygous variant (GA). Analysis of all enrolled patients showed that the GA group was prone to present bilateral symptoms (p = 0.008) and progressive status (Suzuki grade ≥ 4; p = 0.017). Analysis limited to symptomatic patients revealed that the GA group had bilateral symptoms (p = 0.017), younger age at onset (p = 0.043), and, in particular, a higher proportion of onset before 25 years of age (p = 0.021). Multivariate logistic regression analysis of overall patients revealed that earlier age at diagnosis (p < 0.001, OR 0.936, 95% CI 0.914-0.959) and GA group (p = 0.017, OR 3.326, 95%CI 1.237-8.941) were significantly associated with bilateral symptoms. MMD patients diagnosed at a young age with the RNF213 heterozygous variant should be followed up with consideration of possible contralateral stroke if one hemisphere is already symptomatic or of early cerebrovascular events if bilateral hemispheres are asymptomatic.


Subject(s)
Adenosine Triphosphatases , Moyamoya Disease , Ubiquitin-Protein Ligases , Adenosine Triphosphatases/genetics , Genetic Predisposition to Disease , Humans , Moyamoya Disease/genetics , Retrospective Studies , Ubiquitin-Protein Ligases/genetics
18.
BMC Med Genomics ; 14(1): 205, 2021 08 18.
Article in English | MEDLINE | ID: mdl-34407809

ABSTRACT

BACKGROUND: Schwannomas are neoplasms that typically arise from the myelin sheath of peripheral nerves and rarely originate within the brain parenchyma. Some case reports present schwannomas arising from the brainstem, but regrowth of the tumor and the efficacy of postoperative irradiation have not been examined. In addition, the genetic background of schwannomas arising from the brainstem has not been investigated. CASE PRESENTATION: A 21-year-old male presented with diplopia, dysphagia, and left-sided hemiparesis, dysesthesia, and ataxia. Intracranial imaging showed a heterogeneous mass with a cystic lesion in the pontomedullary junction. Since the tumor caused obstructive hydrocephalus, the patient underwent subtotal tumor resection. A histopathologic evaluation aided a diagnosis of brainstem intraparenchymal schwannoma. Gradual postoperative mass regrowth was recognized. Three-dimensional conformal radiotherapy was performed on the residual mass and surgical cavity. No tumor regrowth was observed 4 years after surgery. To investigate the genetic background of the tumor, target sequences for 36 genes, including NF2, SMARCB1, and LZTR1, and microsatellite analysis for loss of 22q did not show any somatic variants or 22q loss. CONCLUSIONS: We suggest that brainstem schwannomas might differ from conventional schwannomas in their genetic background.


Subject(s)
Neurilemmoma
19.
World Neurosurg ; 154: e320-e324, 2021 10.
Article in English | MEDLINE | ID: mdl-34271148

ABSTRACT

BACKGROUND: Increasing restrictions over trainees' working hours and the recent coronavirus disease 2019 pandemic warrant new educational methods of surgical skills. We assessed a novel video-recording system for neuroendovascular skill education, developed with the installation of a hybrid operating room (OR) at our institution. METHODS: A single-plane angiography unit with a large flat display (FlexVision XL; Philips Medical Systems) was installed in our OR. All media sources in the OR, including live fluoroscopy and ceiling-mounted camcorders, were connected to a video switcher. This video switcher laid up to 8 video images into one big image, which was transferred to the large display and the professional-use Blu-ray recorder. The recording was performed continuously during the procedure. This recording system was evaluated retrospectively with a questionnaire administered to the 5 trainees. RESULTS: Using this system, 68 interventional procedures were recorded. Among the potential merits, the trainees assigned the greatest value to the simultaneous recording of the operator's hand motions and the fluoroscopy images. Among the potential limitations of the system, the prolonged time and the increased volume of the video data bothered the trainees the most. The recorded video looked like a live demonstration. CONCLUSIONS: Our "selfie" video recording system was useful for skill training of neuroendovascular interventions.


Subject(s)
Endovascular Procedures/education , Neurosurgery/education , Neurosurgical Procedures/education , Operating Rooms , Video Recording , Angiography , COVID-19 , Clinical Competence , Education, Medical, Graduate , Fluoroscopy , Humans , Internship and Residency , Pandemics , Retrospective Studies , Surveys and Questionnaires
20.
J Clin Med ; 10(13)2021 Jun 25.
Article in English | MEDLINE | ID: mdl-34202349

ABSTRACT

Moyamoya disease is characterized by severe stenosis at the ends of the bilateral internal carotid arteries and the development of collateral circulation. The disease is very diverse in terms of age at onset, onset patterns, radiological findings, and genetic phenotypes. The pattern of onset is mainly divided into ischemic and hemorrhagic onsets. Recently, the opportunity to identify asymptomatic moyamoya disease, which sometimes manifests as nonspecific symptoms such as headache and dizziness, through screening with magnetic resonance imaging has been increasing. Various recent reports have investigated the associations between the clinical features of different onset patterns of moyamoya disease and the corresponding imaging characteristics. In this article, we have reviewed the natural history, clinical features, and imaging features of each onset pattern of moyamoya disease.

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