ABSTRACT
PURPOSE: Although meningiomas are the most common primary intracranial tumors, their genetic etiologies have not been fully elucidated. To date, only two genome-wide association studies (GWASs) have focused on European ancestries, despite ethnic differences in the incidence of meningiomas. The aim of this study was to conduct the first GWAS of Japanese patients with meningiomas to identify the SNPs associated with meningioma susceptibility. METHODS: In this multicenter prospective case-control study, we studied 401 Japanese patients with meningioma admitted in five institutions in Japan, and 50,876 control participants of Japanese ancestry enrolled in Biobank Japan. RESULTS: The quality control process yielded 536,319 variants and imputation resulted in 8,224,735 variants on the autosomes and 224,820 variants on the X chromosomes. This GWAS eventually revealed no genetic variants with genome-wide significance (P < 5 × 10 - 8) and observed no significant association in the previously reported risk variants rs11012732 and rs2686876 due to low minor allele frequency in the Japanese population. CONCLUSION: This is the first GWAS of meningiomas in East Asian populations and is expected to contribute to the development of GWAS research for meningiomas.
ABSTRACT
Development of cerebral venous sinus thrombosis (CVST) is a rare manifestation of heparin-induced thrombocytopenia (HIT). Herein, we present a case in which heparin administration for primary CVST caused paradoxical worsening of CVST secondary to HIT. A 53-year-old woman diagnosed with CVST was provided with intravenous unfractionated heparin therapy. After 12 days, the patient presented tonic convulsive seizures (TCS). Subsequent magnetic resonance image (MRI) scans revealed an exacerbation of cerebral edema with a subcortical hemorrhage on the left parietal lobe. Laboratory test results revealed a significant decline in platelet count. Heparin was immediately discontinued and replaced with argatroban. The definitive diagnosis of HIT was made through the presence of HIT antibodies. The present case, in which HIT caused the secondary CVST exacerbation, is distinctly rare. Our case provides an instructive example by highlighting the potential of TCS as the first sign of HIT development during CVST treatment.
ABSTRACT
Objective: Mechanical thrombectomy (MT) is the gold standard treatment for acute ischemic stroke. During these interventions, a thrombus frequently obstructs a guiding catheter. The obstructed guiding catheter should be withdrawn before distal embolism occurs; however, albeit infrequently, the thrombus occludes even a sheath introducer (SI). While conventionally new SI placement is required for continuation of treatment, we propose a viable alternative for recanalization of the occluded SI, termed vacuum-assisted delivery of thrombus (VADT), with a clinical report of our cases. The usefulness of this technique was also evaluated in simulation experiments. Case Presentations: The VADT procedure is as follows: 1) insert a peel-away sheath, originally attached to a balloon-guiding catheter (BGC), into the SI to continuously open the hemostatic valve; 2) advance the BGC into the peel-away sheath while applying mechanical aspiration; and 3) remove the peel-away sheath/BGC assembly slowly. In a simulation environment using an artificial thrombus, we repeated the VADT procedure five times and reproducibly achieved SI reopening within only 10-20 seconds. From March 2013 to September 2022, 204 patients were treated with MT at our stroke center and SI occlusion occurred in three patients (1.5%). These events occurred exclusively in patients with extracranial internal carotid artery occlusion. All three patients with SI occlusion underwent successfully thrombus extraction in the SI using the VADT on the first try. Conclusion: The results of clinical experience and simulation experiments strongly support VADT as a reliable option for recanalization of an occluded SI.