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1.
No Shinkei Geka ; 52(5): 946-956, 2024 Sep.
Artigo em Japonês | MEDLINE | ID: mdl-39285544

RESUMO

The transsylvian approach is one of the most commonly used approaches in neurosurgery and is essential for clipping aneurysms located in the anterior cranial circulation, such as the middle cerebral artery, internal carotid artery, and anterior communicating artery. Moreover, basilar artery aneurysms can be clipped using this approach, albeit with some modifications. Important tips for dissecting the Sylvian fissures include reliable visualization, anatomical recognition, and steady manipulation. The actual steps are as follows: determine the affiliation of the arteries and veins, gently move the brain to create a wide space, cut the arachnoid mater, and follow the course of the arteries. In case of subarachnoid hemorrhage, irrigation and flushing out the hematoma is the key step involved in recognizing the structure and safely performing surgery. Here, we describe the basic key operative techniques for performing clipping via the transsylvian approach.


Assuntos
Aneurisma Intracraniano , Procedimentos Neurocirúrgicos , Humanos , Procedimentos Neurocirúrgicos/métodos , Aneurisma Intracraniano/cirurgia , Instrumentos Cirúrgicos
2.
Asian J Neurosurg ; 19(3): 526-530, 2024 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-39205900

RESUMO

The majority of meningiomas are slow-growing benign tumors that can potentially be highly vascularized; however, acute hemorrhagic onset is rare. Herein, we describe two patients who presented with disturbance of consciousness and severe hemiplegia due to spontaneous hemorrhage from a falx atypical meningioma. A 49-year-old female presenting with a sudden disturbance of consciousness and severe left hemiplegia was found to have a falx meningioma and acute hemorrhage. Emergent resection achieved neurological relief and tumor control. A 60-year-old female with aphasia and severe right hemiplegia also had falx meningioma and hematoma, and successfully treated by emergent resection. Tumor was diagnosed as atypical meningioma in both cases. Both patients achieved mid-term tumor control for 4 and 7 years. Both patients were treated successfully with emergent surgical resection, and neurological relief and mid-term tumor control (7 and 4 years, respectively) were achieved. Given this success, immediate surgical resection with hematoma evacuation should be considered an acceptable therapeutic option for acute hemorrhagic atypical meningioma.

3.
Transl Stroke Res ; 2024 Apr 09.
Artigo em Inglês | MEDLINE | ID: mdl-38592555

RESUMO

Robust postoperative bypass development is a characteristic of moyamoya disease (MMD); however, genetic factors mediating this phenomenon remain incompletely understood. Therefore, we aimed to elucidate the relationship between postoperative donor artery development and genetic variants. We retrospectively enrolled 63 patients (79 hemispheres) who underwent combined revascularization surgery. Postoperative development of the superficial temporal artery (STA), middle meningeal artery, and deep temporal artery (DTA) was assessed using the caliber-change ratio determined from magnetic resonance angiography measurements. We analyzed RNF213 and 36 other moyamoya angiopathy-related genes by whole-exome sequencing and extracted rare or damaging variants. Thirty-five participants carried RNF213 p.Arg4810Lys (all heterozygotes), whereas 5 had RNF213 rare variants (RVs). p.Arg4810Lys was significantly associated with postoperative DTA development, while age at surgery, hypertension, and hyperlipidemia were inversely associated. Multiple regression analysis revealed that age and p.Arg4810Lys held statistical significance (P = 0.044, coefficient - 0.015, 95% confidence interval (CI) - 0.029 to 0.000 and P = 0.001, coefficient 0.670, 95% CI 0.269 to 1.072, respectively). Those with RNF213 RV without p.Arg4810Lys exhibited a significant trend toward poor DTA development (P = 0.001). Hypertension demonstrated a significant positive association with STA development, which remained significant even after multiple regression analysis (P = 0.001, coefficient 0.303, 95% CI 0.123 to 0.482). Following Bonferroni correction for multiple comparisons, targeted analyses of RNF213 and 36 moyamoya angiopathy-related genes showed a significant association of only RNF213 p.Arg4810Lys with favorable DTA development (P = 0.001). A comprehensive analysis of RNF213, considering both p.Arg4810Lys and RVs, may provide a clearer prediction of postoperative DTA development.

4.
Artigo em Inglês | MEDLINE | ID: mdl-38651892

RESUMO

Salvage treatment of postclipping recurrent aneurysms remains challenging.1,2 The salvage microsurgical clipping is a possible intervention but sometimes difficult because of tissue adhesions around the aneurysm and previously installed clips; therefore, salvage coil embolization may have certain advantages.1-5 However, when coil embolization is not applicable,6 microsurgical clipping is a stand-alone curative treatment, requiring proficient and reliable microsurgical techniques. This article describes a unique case of a 70-year-old female patient complaining of a severe headache with subarachnoid hemorrhage due to a recurrent ruptured left internal carotid-posterior communicating artery aneurysm after microsurgical clipping 23 years ago. An initial attempt at coil embolization proved unsuccessful because of the aneurysm shape. Consequently, the salvage microsurgical clipping was planned. Given the additional time for trapping the internal carotid artery for the old clip removal, a superficial temporal artery-middle cerebral artery bypass was also planned. The operation entailed a superficial temporal artery-middle cerebral artery bypass, a Sylvian fissure dissection, the old clip removal, and aneurysm clipping. Intraoperatively, the complete aneurysm neck clipping was successfully performed without any complication, and patient postoperative course was uneventful. A wide surgical field should be obtained to be able to manipulate the aneurysm and old clip safely under a microscope. It is also important to temporarily trap the main artery to ensure removal of old clips and to prepare for intraprocedural ischemia using bypass after a precise assessment of hemodynamics before surgery. The patient provided informed consent for the procedure and the publication of the case along with its pertinent imaging, and this report was approved by the institutional review board at our hospital.

5.
World Neurosurg ; 172: e438-e446, 2023 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-36657715

RESUMO

OBJECTIVE: Cerebrovascular events in moyamoya disease are mainly classified into ischemic or hemorrhagic onset. It is rare for one patient to develop both ischemia and hemorrhage in moyamoya disease; detailed clinical course and genetic characteristics of such patients have not been elucidated. We aimed to clarify the clinical features of patients with both ischemic and hemorrhagic cerebrovascular events. METHODS: We analyzed the background factors, radiological features, and genotype of ring finger protein 213 c.14429 G > A (p.Arg4810Lys) of patients with moyamoya disease who visited our hospital between 1996 and 2020, and experienced both ischemic and hemorrhagic cerebrovascular events. Additionally, we analyzed factors that caused subsequent hemorrhage in adult-onset ischemic moyamoya disease. RESULTS: Of 262 patients, 12 presented with both ischemia and hemorrhage, of which, 4 exhibited pediatric onset and 8 had adult onset. In pediatric-onset subjects, ischemia was the initial event in all cases. Hemorrhagic events occurred at a median of 24.7 years postoperatively in patients who had undergone bypass surgery. In adult-onset subjects, ischemia preceded hemorrhage in 7 patients. In males, the interval to subsequent hemorrhage was significantly shorter for adult-onset ischemic moyamoya disease, and the hazard ratio for hemorrhagic events was 5.45. The ring finger protein 213 p.Arg4810Lys heterozygous variant was present in 9 patients. CONCLUSIONS: A majority of patients with moyamoya disease with both ischemia and hemorrhage experience an ischemic event first. Patients who developed ischemia in childhood may develop subsequent hemorrhage in approximately 20-25 years after bypass surgery. Male sex is a risk factor for a subsequent hemorrhagic event in adult-onset ischemic moyamoya disease.


Assuntos
Revascularização Cerebral , Doença de Moyamoya , Adulto , Criança , Humanos , Masculino , Doença de Moyamoya/complicações , Doença de Moyamoya/diagnóstico por imagem , Doença de Moyamoya/genética , Hemorragia Cerebral/diagnóstico por imagem , Hemorragia Cerebral/genética , Isquemia/complicações , Revascularização Cerebral/efeitos adversos
6.
Transl Stroke Res ; 14(3): 322-333, 2023 06.
Artigo em Inglês | MEDLINE | ID: mdl-35701560

RESUMO

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.


Assuntos
Estudo de Associação Genômica Ampla , Doenças Vasculares , Humanos , Predisposição Genética para Doença/genética , Constrição Patológica/genética , Polimorfismo de Nucleotídeo Único/genética , Artérias , Adenosina Trifosfatases/genética , Ubiquitina-Proteína Ligases/genética
7.
J Hum Genet ; 68(3): 157-167, 2023 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-35831630

RESUMO

Cerebrovascular malformations comprise abnormal development of cerebral vasculature. They can result in hemorrhagic stroke due to rupture of lesions as well as seizures and neurological defects. The most common forms of cerebrovascular malformations are brain arteriovenous malformations (bAVMs) and cerebral cavernous malformations (CCMs). They occur in both sporadic and inherited forms. Rapidly evolving molecular genetic methodologies have helped to identify causative or associated genes involved in genesis of bAVMs and CCMs. In this review, we highlight the current knowledge regarding the genetic basis of these malformations.


Assuntos
Malformações Arteriovenosas , Hemangioma Cavernoso do Sistema Nervoso Central , Humanos , Hemangioma Cavernoso do Sistema Nervoso Central/genética , Encéfalo , Convulsões
8.
J Neurol Surg B Skull Base ; 83(Suppl 3): e659-e660, 2022 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-36068898

RESUMO

We present a 52-year-old male case of right trigeminal neurinoma at lateral cavernous sinus. The tumor was 40 mm in maximum diameter, obviously compressed temporal lobe and encased internal carotid artery. Extradural middle fossa and transcavernous approach was applied and the tumor was resected via Parkinson's triangle. This approach enabled safe and effective tumor resection, sufficient visualization, and operative field ( Figs. 1 and 2 ). We performed dissection of the tumor from trigeminal nerve, tentorium, and middle fossa and resect the tumor around internal carotid artery sufficiently. Postoperative course was good without any new neurological deficit. This surgical method is considered safe and effective for the resection of the tumor at lateral cavernous sinus. The link to the video can be found at: https://youtu.be/2ekuILIgEuo.

9.
Asian J Neurosurg ; 17(2): 352-356, 2022 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-36120622

RESUMO

Direct revascularization surgery, such as superficial temporal artery (STA)-middle cerebral artery (MCA) bypass, is effective in preventing ischemia and hemorrhage for moyamoya disease. On the other hand, when ischemia of the anterior cerebral artery (ACA) region progresses after ipsilateral STA-MCA bypass, it is difficult to perform revascularization from the viewpoint of the donor artery. A 55-year-old woman with right hemiparesis was diagnosed with cerebral infarction due to moyamoya disease. Left STA-MCA bypass was performed with no postoperative complications, but memory impairment and decreased motivation were observed 2 months after the operation. Magnetic resonance imaging and angiography revealed new infarction in the bilateral ACA area and deterioration in the signal intensity of bilateral ACAs. Revascularization of the bilateral ACA regions was considered necessary, but the left STA was already used in the previous surgery. Therefore, STA-radial artery (RA)-A3 bypass using RA graft combined with right STA-MCA bypass was performed. STA-A3 bypass using an RA graft may be the optimal treatment for ischemia of the ACA region that progresses after STA-MCA bypass.

10.
No Shinkei Geka ; 50(4): 773-778, 2022 Jul.
Artigo em Japonês | MEDLINE | ID: mdl-35946366

RESUMO

The superficial temporal artery-middle cerebral artery(STA-MCA)bypass technique is extremely important as the basis for both cerebral revascularization in chronic-stage ischemia and emergency surgical revascularization, including open surgical embolectomy. The sophisticated technique of microvascular bypass could also contribute to rescuing inadvertent vascular injuries, such as those occurring in difficult tumor surgery. Therefore, novice neurosurgeons should practice mastering the microvascular suturing technique.


Assuntos
Revascularização Cerebral , Artérias Temporais , Revascularização Cerebral/métodos , Humanos , Artéria Cerebral Média/cirurgia , Neurocirurgiões , Artérias Temporais/cirurgia , Procedimentos Cirúrgicos Vasculares
11.
Biochem Biophys Res Commun ; 607: 54-59, 2022 06 04.
Artigo em Inglês | MEDLINE | ID: mdl-35366544

RESUMO

Corticotropin-releasing factor (CRF), a representative stress-related neuropeptide, in the central nervous system reportedly both facilitates and suppresses the micturition, therefore, roles of central CRF in regulation of the micturition are still controversial. In this study, we investigated (1) effects of intracerebroventricularly (icv)-administered CRF on the micturition, and (2) brain CRF receptor subtypes (CRFR1/CRFR2) and glutamatergic receptors (NMDA/AMPA subtypes) involved in the CRF-induced effects in male Wistar rats under urethane anesthesia. Intercontraction intervals (ICI), and maximal voiding pressure (MVP), were evaluated by continuous cystometry 45 min before CRF administration or intracerebroventricular pretreatment with other drugs as follows and 3 h after CRF administration. Single-voided volume (Vv), post-voiding residual volume (Rv), bladder capacity (BC), and voiding efficiency (VE) were evaluated by single cystometry 60 min before CRF administration and 60-120 min after the administration. Icv-administered CRF reduced ICI, Vv, and BC without changing MVP, Rv, or VE. The CRF-induced ICI reduction was attenuated by icv-pretreated CP154526 (CRFR1 antagonist), MK-801 (NMDA receptor antagonist), and DNQX (AMPA receptor antagonist), but not by K41498 (CRFR2 antagonist). These results indicate that stimulation of brain CRFR1 can be involved in facilitation of the rat micturition via brain NMDA/AMPA receptors.


Assuntos
Receptores de Hormônio Liberador da Corticotropina , Micção , Animais , Encéfalo , Hormônio Liberador da Corticotropina/farmacologia , Masculino , N-Metilaspartato/farmacologia , Ratos , Ratos Wistar , Receptores de N-Metil-D-Aspartato
12.
Transl Stroke Res ; 13(3): 410-419, 2022 06.
Artigo em Inglês | MEDLINE | ID: mdl-34716882

RESUMO

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.


Assuntos
Adenosina Trifosfatases , Doença de Moyamoya , Ubiquitina-Proteína Ligases , Adenosina Trifosfatases/genética , Predisposição Genética para Doença , Humanos , Doença de Moyamoya/genética , Estudos Retrospectivos , Ubiquitina-Proteína Ligases/genética
13.
Surg Neurol Int ; 12: 246, 2021.
Artigo em Inglês | MEDLINE | ID: mdl-34221577

RESUMO

BACKGROUND: Thoracic ossification of the yellow ligament (OYL) may contribute to myelopathy. In the case presented, the patient additionally had a chronic posterior fossa arachnoid cyst with an acquired Chiari I malformation and cervicothoracic syrinx. CASE DESCRIPTION: A 40-year-old female with a posterior fossa arachnoid cyst found 17 years ago, and newly acquired Chiari I malformation (tonsils down 5 mm) with a C7-T5 syrnix, presented with the new onset of lower extremity myelopathy. The MR documented marked dorsolateral cord compression due to T11/T12 OYL. Six months following a laminectomy for resection of OYL, the patient was asymptomatic. CONCLUSION: In patients presenting with the new onset of lower extremity myelopathy, evaluation of the complete neuraxis may be warranted. Here, the patient has an unchanged posterior fossa arachnoid cyst with an acquired Chiari I malformation/C7-T5 syrinx. However, the patient's symptoms were fully attributed to the MR-documented T11/T12 OYL that was successfully resected.

14.
Asian J Neurosurg ; 16(1): 212-216, 2021.
Artigo em Inglês | MEDLINE | ID: mdl-34211898

RESUMO

Extracranial-intracranial (EC-IC) arterial bypass surgery was developed to prevent subsequent stroke by improving hemodynamics distal to the occluded intracranial artery, but its utilization has been decreasing due to the development in medical treatment. However, EC-IC bypass surgery may be effective for arresting or reversing cognitive decline in patients with cerebral ischemia. A 69-year-old man with the left internal carotid artery occlusion that manifested as scattered cerebral infarction of the left hemisphere presented with dysarthria and transient right hemiparesis. Hemodynamic condition was impaired in the left side, and therefore, EC-IC bypass surgery was performed to prevent recurrence of cerebral infarction. Neuropsychological examination at 6 months after the surgery showed marked improvement as compared to the preoperative examination and there was no recurrence of stroke in the patient. EC-IC bypass may contribute to the improvement of cognitive function as well as the prevention of recurrence of cerebral infarction in patients with hemodynamic insufficiency, but there might be a threshold of hemodynamic impairment with respect to the reversibility of cognitive performance. Investigation of the target and timing can identify cases in which the cognitive function is improved by surgery.

15.
Biochem Biophys Res Commun ; 548: 84-90, 2021 04 09.
Artigo em Inglês | MEDLINE | ID: mdl-33636639

RESUMO

Brain nicotinic acetylcholine receptors (nAChRs) reportedly suppress the micturition, but the mechanisms responsible for this suppression remain unclear. We previously reported that intracerebroventricularly administered (±)-epibatidine (non-selective nAChR agonist) activated the sympatho-adrenomedullary system, which can affect the micturition. Therefore, we investigated (1) whether intracerebroventricularly administered (±)-epibatidine-induced effects on the micturition were dependent on the sympatho-adrenomedullary system, and (2) brain nAChR subtypes involved in the (±)-epibatidine-induced effects in urethane-anesthetized male Wistar rats. Plasma noradrenaline and adrenaline (catecholamines) were measured just before and 5 min after (±)-epibatidine administration. Evaluation of urodynamic parameters, intercontraction intervals (ICI) and maximal voiding pressure (MVP) by cystometry was started 1 h before (±)-epibatidine administration or intracerebroventricular pretreatment with other drugs and continued 1 h after (±)-epibatidine administration. Intracerebroventricularly administered (±)-epibatidine elevated plasma catecholamines and prolonged ICI without affecting MVP, and these changes were suppressed by intracerebroventricularly pretreated mecamylamine (non-selective nAChR antagonist). Acute bilateral adrenalectomy abolished the (±)-epibatidine-induced elevation of plasma catecholamines, but had no effect on the (±)-epibatidine-induced ICI prolongation. The latter was suppressed by intracerebroventricularly pretreated methyllycaconitine (selective α7-nAChR antagonist), SR95531 (GABAA antagonist), and SCH50911 (GABAB antagonist), but not by dihydro-ß-erythroidine (selective α4ß2-nAChR antagonist). Intracerebroventricularly administered PHA568487 (selective α7-nAChR agonist) prolonged ICI without affecting MVP, similar to (±)-epibatidine. These results suggest that stimulation of brain α7-nAChRs suppresses the rat micturition through brain GABAA/GABAB receptors, independently of the sympatho-adrenomedullary outflow modulation.


Assuntos
Encéfalo/metabolismo , Receptores de GABA/metabolismo , Micção , Receptor Nicotínico de Acetilcolina alfa7/metabolismo , Medula Suprarrenal/efeitos dos fármacos , Medula Suprarrenal/metabolismo , Adrenalectomia , Animais , Compostos Bicíclicos Heterocíclicos com Pontes/farmacologia , Epinefrina/sangue , Masculino , Contração Muscular/efeitos dos fármacos , Norepinefrina/sangue , Piridinas/farmacologia , Ratos Wistar , Sistema Nervoso Simpático/efeitos dos fármacos , Sistema Nervoso Simpático/metabolismo
16.
Neurosurgery ; 88(1): 82-95, 2020 12 15.
Artigo em Inglês | MEDLINE | ID: mdl-32745190

RESUMO

BACKGROUND: Giant fusiform and dolichoectatic aneurysms of the basilar trunk and vertebrobasilar junction (BTVBJ-GFDA) are extremely difficult to treat. OBJECTIVE: To evaluate factors influencing survival and outcome of BTVBJ-GFDA by performing a retrospective multicenter cohort study. METHODS: A total of 32 patients with BTVBJ-GFDA were included in this study. Clinicopathological characteristics, treatment measures, and outcomes were collected from medical records and imaging studies. Autopsy and histological findings of the aneurysm and adjacent brain tissue were also obtained in 9 cases. RESULTS: A total of 11 patients did not undergo surgery, of whom 10 died; 3 from progressive brainstem compression, 4 from subarachnoid hemorrhage, 2 from brainstem infarction, and 1 from associated atherosclerotic disease. The remaining 21 patients underwent a surgical treatment, consisting of immediately proximal parent artery occlusion, remotely proximal parent artery occlusion, clip reconstruction, and distal bypass and achieved significantly longer overall survival compared with those who received conservative therapy (adjusted hazard ratio 1.508, 95% CI 1.058-2.148, P = .02). Histological examination of the aneurysms demonstrated staged clots, open lumen, and intrathrombotic channels with endothelial lining. The patients younger than 45 yr of age showed statistically longer survival than those equal and older than 45 yr (P = .03). CONCLUSION: Surgical intervention achieved greater survival than conservative management in BTVBJ-GFDA. Narrow ideal treatment window of the blood flow within the aneurysm to maintain sufficient but not excess supply should be targeted based on the hemodynamics of both the posterior communicating arteries and perforating vessel collaterals.


Assuntos
Revascularização Cerebral/métodos , Aneurisma Intracraniano/cirurgia , Adolescente , Adulto , Revascularização Cerebral/mortalidade , Estudos de Coortes , Feminino , Humanos , Aneurisma Intracraniano/mortalidade , Masculino , Pessoa de Meia-Idade , Estudos Retrospectivos , Resultado do Tratamento
17.
Sci Rep ; 10(1): 11942, 2020 07 20.
Artigo em Inglês | MEDLINE | ID: mdl-32686731

RESUMO

Intracranial artery stenosis (ICAS) is the most common cause of ischemic stroke worldwide. RNF213 single nucleotide variant c.14429G > A (p.Arg4810Lys, rs112735431) was recently reported to be associated with ICAS in East Asians. However, the disease susceptibility of other RNF213 variants has not been clarified. This study comprehensively investigated ICAS-associated RNF213 variants in a pool of 168 Japanese ICAS patients and 1,194 control subjects. We found 138 nonsynonymous germline variants by target resequencing of all coding exons in RNF213. Association study between ICAS patients and control subjects revealed that only p.Arg4810Lys had significant association with ICAS (P = 1.5 × 10-28, odds ratio = 29.3, 95% confidence interval 15.31-56.2 [dominant model]). Fourteen of 138 variants were rare variants detected in ICAS patients not harboring p.Arg4810Lys variant. Two of these rare variants (p.Cys118Arg and p.Leu2356Phe) consistent with variants previously reported in moyamoya disease patients characterized by stenosis of intracranial artery and association with RNF213, and three rare variants (p.Ser193Gly, p.Val1817Leu, and p.Asp3329Tyr) were found neither in control subjects and Single Nucleotide Polymorphism Database. The present findings may improve our understanding of the genetic background of intracranial artery stenosis.


Assuntos
Adenosina Trifosfatases/genética , Constrição Patológica/etiologia , Constrição Patológica/patologia , Predisposição Genética para Doença , Variação Genética , Doenças Arteriais Intracranianas/genética , Doenças Arteriais Intracranianas/patologia , Ubiquitina-Proteína Ligases/genética , Adolescente , Adulto , Idoso , Idoso de 80 Anos ou mais , Alelos , Substituição de Aminoácidos , Feminino , Estudos de Associação Genética , Genótipo , Humanos , Doenças Arteriais Intracranianas/diagnóstico por imagem , Masculino , Pessoa de Meia-Idade , Mutação de Sentido Incorreto , Polimorfismo de Nucleotídeo Único , Análise de Sequência de DNA , Adulto Jovem
18.
Surg Neurol Int ; 10: 205, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-31768285

RESUMO

BACKGROUND: Very large and giant aneurysms (≥20 mm) of the internal carotid artery (ICA) bifurcation (ICAbif) are definitely rare, and optimal treatment is not established. Endovascular treatments are reported as suboptimal due to difficulties of complete occlusion and tendencies to recanalization. Therefore, direct surgery remains an effective strategy if the clipping can be performed safely and reliably, although very difficult. CASE DESCRIPTION: Two cases of ICAbif aneurysms (>20 mm) were treated. Prior assistant superficial temporal artery (STA)-middle cerebral artery (MCA) bypass was performed to avoid ischemic complications during prolonged temporary occlusion of the arteries in both cases. In Case 1 (22-mm aneurysm), the dome was inadvertently torn in applying the clip because trapping had resulted in insufficient decompression. Therefore, in Case 2 (28-mm aneurysm), almost complete trapping of the aneurysm and subsequent dome puncture was performed, and the aneurysm was totally deflated by suction from the incision. This complete aneurysm decompression allowed safe dissection and successful clipping. CONCLUSION: Trapping, deliberate aneurysm dome puncture, and suction decompression from the incision in conjunction with assistant STA-MCA bypass can achieve complete aneurysm deflation, and these techniques enable safe dissection of the aneurysm and direct clipping of the aneurysm neck. Direct clipping with this technique for very large and giant ICAbif aneurysms may be the optimal treatment choice with the acceptable outcome if endovascular treatment remains suboptimal.

19.
J Neurol Surg B Skull Base ; 80(Suppl 3): S302-S303, 2019 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-31143602

RESUMO

We present a 71-year-old female case of left cerebellopontine angle (CPA) meningioma who presented with progressive hearing loss. The tumor was 35 mm in maximum diameter, obviously compressed the brain stem and cerebellum, and also displaced cranial nerves 7th and 8th anteriorly ( Fig. 1 ). Retrosigmoid approach was chosen to resect the tumor aiming for hearing improvement. We performed dissection of the tumor from cranial nerves 7th and 8th gently and resection of the tumor except for the part adhesive to these cranial nerves ( Fig. 2 ). Postoperative course was good without any new neurological deficit. Postoperative examination also showed improvement of high-frequency hearing of the left side, and auditory brainstem response demonstrated wave 2 to 5, which was not identify on preoperative examination. These procedures enabled safe and effective resection of the tumor and contributed to hearing improvement. The link to the video can be found at: https://youtu.be/hkRSCxtV3bY .

20.
J Neurosurg ; 129(Suppl1): 17-25, 2018 12 01.
Artigo em Inglês | MEDLINE | ID: mdl-30544289

RESUMO

OBJECTIVEIn Gamma Knife radiosurgery (GKS) for arteriovenous malformations (AVMs), CT angiography (CTA), MRI, and digital subtraction angiography (DSA) are generally used to define the nidus. Although the AVM angioarchitecture can be visualized with superior resolution using rotational angiography (RA), the efficacy of integrating RA into the GKS treatment planning process has not been elucidated.METHODSUsing data collected from 25 consecutive patients with AVMs who were treated with GKS at the authors' institution, two neurosurgeons independently created treatment plans for each patient before and after RA integration. For all patients, MR angiography, contrasted T1 imaging, CTA, DSA, and RA were performed before treatment. The prescription isodose volume before (PIVB) and after (PIVA) RA integration was measured. For reference purposes, a reference target volume (RTV) for each nidus was determined by two other physicians independent of the planning surgeons, and the RTV covered by the PIV (RTVPIV) was established. The undertreated volume ratio (UVR), overtreated volume ratio (OVR), and Paddick's conformal index (CI), which were calculated as RTVPIV/RTV, RTVPIV/PIV, and (RTVPIV)2/(RTV × PIV), respectively, were measured by each neurosurgeon before and after RA integration, and the surgeons' values at each point were averaged. Wilcoxon signed-rank tests were used to compare the values obtained before and after RA integration. The percentage change from before to after RA integration was calculated for the average UVR (%ΔUVRave), OVR (%ΔOVRave), and CI (%ΔCIave) in each patient, as ([value after RA integration]/[value before RA integration] - 1) × 100. The relationships between prior histories and these percentage change values were examined using Wilcoxon signed-rank tests.RESULTSThe average values obtained by the two surgeons for the median UVR, OVR, and CI were 0.854, 0.445, and 0.367 before RA integration and 0.882, 0.478, and 0.463 after RA integration, respectively. All variables significantly improved after compared with before RA integration (UVR, p = 0.009; OVR, p < 0.001; CI, p < 0.001). Prior hemorrhage was significantly associated with larger %ΔOVRave (median 20.8% vs 7.2%; p = 0.023) and %ΔCIave (median 33.9% vs 13.8%; p = 0.014), but not %ΔUVRave (median 4.7% vs 4.0%; p = 0.449).CONCLUSIONSIntegrating RA into GKS treatment planning may permit better dose planning owing to clearer visualization of the nidus and, as such, may reduce undertreatment and waste irradiation. Further studies examining whether the observed RA-related improvement in dose planning also improves the radiosurgical outcome are needed.


Assuntos
Angiografia Cerebral , Malformações Arteriovenosas Intracranianas/diagnóstico por imagem , Malformações Arteriovenosas Intracranianas/radioterapia , Radiocirurgia , Planejamento da Radioterapia Assistida por Computador , Radioterapia Guiada por Imagem , Adolescente , Adulto , Idoso , Angiografia Cerebral/métodos , Angiografia por Tomografia Computadorizada , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Radiocirurgia/métodos , Dosagem Radioterapêutica , Planejamento da Radioterapia Assistida por Computador/métodos , Adulto Jovem
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