BACKGROUND: Social media has allowed patients with rare diseases to connect and discuss their experiences with others online. This study analyzed various social media platforms to better understand the patient\'s perception of arteriovenous malformation.
METHODS: Twitter, Instagram, and TikTok were searched to find posts about patients\' experiences with arteriovenous malformations (AVM). Posts unrelated to the patient\'s experience were excluded. Posts were coded for the relevant themes related to their experience with the disease, as well as engagement, and gender.
RESULTS: The most common theme was raising awareness about the condition (87.0%). Recounting symptoms (50.2%), spreading positivity (17.5%), and survival (8.3%) were other common themes. Other prevalent themes were pain (5.2%) and fear of a rare disease (3.5%). Approximately half of AVM-related Instagram (47.93%) and TikTok (52.94%) posts raised awareness about the condition. Most Instagram (67.75%) and TikTok (89.71%) posts focused on recovery and rehabilitation. Most TikTok posts discussed \"survival\" or \"death\" (57.35%), while the majority focused on spreading positivity (79.41%). Most posts were made by women (69.6%). Females were more likely than males to post about the scientific explanation of AVMs (p = 0.003).
CONCLUSIONS: Social media allows patients across the country and the globe to discuss their experiences with uncommon diseases and connect with others. It also allows AVM patients to share their experiences with other patients and the public.

BACKGROUND: Cyst formation after stereotactic radiosurgery (SRS) for brain arteriovenous malformations (AVMs) is a rare, delayed but important complication. Prompt recognition and appropriate treatment is essential for good outcome.
METHODS: We analysed our institute\'s Gamma knife treatment records from 2008 to 2023 and analysed AVM treated patients by gamma knife radiosurgery (GKRS). Patients with cyst formation and with adequate follow up were identified. Clinical details, management and prognosis of these patients was studied in detail along with prior literature review.
RESULTS: A total of 921 AVM patients were treated in the above period and 7 patients were identified with cyst formation. The mean nidus volume was 12.98 ml, the mean radio surgical marginal dose was 23.57 Gy and maximal dose 47.21 Gy. The mean interval gap between SRS and cyst detection was 6.45 years. The mean volume of cyst cavity formed was 47.85 ml. Patients presented either with features of raised intracranial pressure (3) or focal neurological deficits (3) or seizures (1). 3 patients had achieved angiographic nidus obliteration at the time of cyst detection. Treatment was mostly on surgical lines with cyst fenestration(2 patients), excision (3 patients) and emergency decompressive craniectomy (1 patient). 1 patient required additional Ommaya insertion. Conservative management was followed for 1 patient. Residual nidus was treated either by concomitant excision or embolization or redo GKRS. Favourable outcome was seen in 6 out of 7 patients (85.71%) post cyst management with symptomatic and radiological improvement whereas 1 patient (14.28%) died due to refractory status epilepticus secondary to malignant cerebral edema.
CONCLUSIONS: Cyst formation after GKRS for AVM treatment is an often-neglected complication due to its low incidence and often long latency period. Long term follow up of patients is hence necessary for prompt recognition. Diagnostic DSA should be done in all patients with cysts to look for residual nidus. Asymptomatic ones can be followed up conservatively while surgical treatment is required for symptomatic cases. Ventricular diversion like Ommaya or cystoperitoneal shunt may be necessary in some cases. Treatment outcome is usually favourable provided timely detection is done.

OBJECTIVE: Preoperative endovascular embolisation is a widely used adjunct for the surgical treatment of brain arteriovenous malformations (AVMs). However, whether this improves completeness of AVM resection is unknown, as previous analyses have not adjusted for potential confounding factors. We aimed to determine if preoperative endovascular embolisation was associated with increased rate of complete AVM resection at first surgery, following adjustment for Spetzler-Martin grade items.
METHODS: We identified a cohort of all patients undergoing first ever AVM resection in a specialist neurosciences unit in the NHS Lothian Health Board region of Scotland between June 2004 and June 2022. Data was prospectively extracted from medical records. Our primary outcome was completeness of AVM resection. We determined the odds of complete AVM resection using binomial logistic regression with adjustment for Spetzler-Martin grading system items: maximum nidus diameter, eloquence of adjacent brain and the presence of deep venous drainage.
RESULTS: 88 patients (median age 40y [IQR 19-53], 55% male) underwent AVM resection. 34/88 (39%) patients underwent preoperative embolisation and complete resection was achieved at first surgery in 74/88 (84%). Preoperative embolisation was associated with increased adjusted odds of complete AVM resection (adjusted odds ratio [aOR] 8.6 [95% confidence interval (95% CI) 1.7-67.7]; p = 0.017). The presence of deep venous drainage was associated with reduced chance of complete AVM resection (aOR 0.18 [95% CI 0.04-0.63]; p = 0.009).
CONCLUSIONS: Preoperative embolisation is associated with improved chances of complete AVM resection following adjustment for Spetzler-Martin grade, and should therefore be considered when planning surgical resection of AVMs.

暂无摘要。

Telangiectases and arteriovenous malformations (AVMs) are the characteristic lesions of Hereditary Hemorrhagic Telangiectasia (HHT). Somatic second-hit loss-of-function variations in the HHT causative genes, ENG and ACVRL1, have been described in dermal telangiectasias. It is unclear if somatic second-hit mutations also cause the formation of AVMs and nasal telangiectasias in HHT. To investigate the genetic mechanism of AVM formation in HHT, we evaluated multiple affected tissues from fourteen individuals. DNA was extracted from fresh/frozen tissue of 15 nasal telangiectasia, 4 dermal telangiectasia, and 9 normal control tissue biopsies, from nine unrelated individuals with HHT. DNA from six formalin-fixed paraffin-embedded (FFPE) AVM tissues (brain, lung, liver, and gallbladder) from five individuals was evaluated. A 736 vascular malformation and cancer gene next-generation sequencing (NGS) panel was used to evaluate these tissues down to 1% somatic mosaicism. Somatic second-hit mutations were identified in three in four AVM biopsies (75%) or half of the FFPE (50%) samples, including the loss of heterozygosity in ENG in one brain AVM sample, in which the germline mutation occurred in a different allele than a nearby somatic mutation (both are loss-of-function mutations). Eight of nine (88.9%) patients in whom telangiectasia tissues were evaluated had a somatic mutation ranging from 0.68 to 1.96% in the same gene with the germline mutation. Six of fifteen (40%) nasal and two of four (50%) dermal telangiectasia had a detectable somatic second hit. Additional low-level somatic mutations in other genes were identified in several telangiectasias. This is the first report that nasal telangiectasias and solid organ AVMs in HHT are caused by very-low-level somatic biallelic second-hit mutations.

Hereditary Hemorrhagic Telangiectasia (HHT) is a rare congenital disease in which fragile vascular malformations (VM) - including small telangiectasias and large arteriovenous malformations (AVMs) - focally develop in multiple organs. There are few treatment options and no cure for HHT. Most HHT patients are heterozygous for loss-of-function mutations affecting Endoglin (ENG) or Alk1 (ACVRL1); however, why loss of these genes manifests as VMs remains poorly understood. To complement ongoing work in animal models, we have developed a fully human, cell-based microphysiological model based on our Vascularized Micro-organ (VMO) platform (the HHT-VMO) that recapitulates HHT patient VMs. Using inducible ACVRL1 -knockdown, we control timing and extent of endogenous Alk1 expression in primary human endothelial cells (EC). Resulting HHT-VMO VMs develop over several days. Interestingly, in chimera experiments AVM-like lesions can be comprised of both Alk1-intact and Alk1-deficient EC, suggesting possible cell non-autonomous effects. Single cell RNA sequencing data are consistent with microvessel pruning/regression as contributing to AVM formation, while loss of PDGFB implicates mural cell recruitment. Finally, lesion formation is blocked by the VEGFR inhibitor pazopanib, mirroring positive effects of this drug in patients. In summary, we have developed a novel HHT-on-a-chip model that faithfully reproduces HHT patient lesions and that can be used to better understand HHT disease biology and identify potential new HHT drugs.

BACKGROUND: This study is the first multicentric report on the safety, efficacy, and technical performance of utilizing a large bore (0.081″ inner diameter) access catheter in neurovascular interventions.
METHODS: Data were retrospectively collected from seven sites in the United States for neurovascular procedures via large bore 0.081″ inner diameter access catheter (Benchmark BMX81, Penumbra, Inc.). The primary outcome was technical success, defined as the access catheter reaching its target vessel. Safety outcomes included periprocedural device-related and access site complications.
RESULTS: There were 90 consecutive patients included. The median age of the patients was 63 years (IQR: 53, 68); 53% were female. The most common interventions were aneurysm embolization (33.3%), carotid stenting (12.2%), and arteriovenous malformation embolization (11.1%). The transradial approach was most used (56.7%), followed by transfemoral (41.1%). Challenging anatomic variations included severe vessel tortuosity (8/90, 8.9%), type 2 aortic arch (7/90, 7.8%), type 3 aortic arch (2/90, 2.2%), bovine arch (2/90, 2.2%), and severe angle (<30°) between the subclavian artery and target vessel (1/90, 1.1%). Technical success was achieved in 98.9% of the cases (89/90), with six cases requiring a switch from radial to femoral (6.7%) and one case from femoral to radial (1.1%). There were no access site complications or complications related to the 0.081″ catheter. Two postprocedural complications occurred (2.2%), unrelated to the access catheter.
CONCLUSIONS: The BMX™ 81 large-bore access catheters was safe and effective in both radial and femoral access across a wide range of neurovascular procedures, achieving high technical success without any access site or device-related complications.

Hemangioblastoma (HBM) is a tumor distinguished by the presence of stromal cells and small vessels. These stromal cells represent stem cells, which, due to the influence of the neoplasm, proliferate and differentiate into \"vasoformative elements\" that create new blood vessels. Hemangioblastomas resemble arteriovenous malformation (AVM) in imaging features, characterized by an apparent vascular blush, the presence of multiple feeding vessels, and evident draining veins observed on digital subtraction angiography (DSA). Our study presents a case of HBM in the right cerebellar hemisphere mimicking AVM. The patient had been diagnosed with AVM in the same location two years ago and managed with endovascular embolization. One month prior, the patient experienced severe headaches, imbalance, nausea, left ear fullness, blurry vision, and high blood pressure. The imaging feature suggests HBM rather than AVM. The patient next underwent sub-occipital craniotomy and tumor resection with external ventricular drainage (EVD) insertion. The histopathological report of the excised mass confirmed HBM. In conclusion, AVM and HBM rarely occur together. Recent research indicates that HBM and AVM have exact embryologic origins and need later genetic alterations to develop into symptomatic lesions. Further research is required to clarify the uncommon combination of these lesions.

BACKGROUND: Brain arteriovenous malformations (bAVMs) are vascular abnormalities that can be treated with embolization or radiotherapy to prevent the risk of future rupture. In this study, we use hand-crafted radiomics and deep learning techniques to predict favorable vs. unfavorable outcomes following Gamma Knife radiosurgery (GKRS) of bAVMs and compare their prediction performances.
METHODS: One hundred twenty-six patients seen at one academic medical center for GKRS obliteration of bAVMs over 15 years were retrospectively reviewed. Forty-two patients met the inclusion criteria. Favorable outcomes were defined as complete nidus obliteration demonstrated on cerebral angiogram and asymptomatic recovery. Unfavorable outcomes were defined as incomplete obliteration or complications relating to the AVM that developed after GKRS. Outcome predictions were made using a random forest model with hand-crafted radiomic features and a fine-tuned ResNet-34 convolutional neural network (CNN) model. The performance was evaluated by using a ten-fold cross-validation technique.
RESULTS: The average accuracy and area-under-curve (AUC) values of the Random Forest Classifier (RFC) with radiomics features were 68.5 ±9.80% and 0.705 ±0.086, whereas those of the ResNet-34 model were 60.0 ±11.9% and 0.694 ±0.124. Four radiomics features used with RFC discriminated unfavorable response cases from favorable response cases with statistical significance. When cropped images were used with ResNet-34, the accuracy and AUC decreased to 59.3 ± 14.2% and 55.4 ±10.4%, respectively.
CONCLUSIONS: A hand-crafted radiomics model and a pre-trained CNN model can be fine-tuned on pre-treatment MRI scans to predict clinical outcomes of AVM patients undergoing GKRS with equivalent prediction performance. The outcome predictions are promising but require further external validation on more patients.

Focal seizures with subjective auditory phenomena, known as auditory seizures, are uncommon and can include simple to complex auditory hallucinations. We present a case of a 59-year-old man who presented with motor and non-motor seizures. He had a four-month history of hearing things resembling continuous metallic sounds, pennies dropping into a bank, persistent music after radio cessation, and the sound of a passing train. Brain MRI showed multiple serpiginous flow voids in the right temporal lobes, consistent with an arteriovenous malformation that was confirmed eventually with a diagnostic brain angiogram. The etiology of the seizures was related to a structural lesion in the setting of a right temporal arteriovenous malformation (AVM). Treatment with 2000mg of levetiracetam twice daily and 300mg of oxcarbazepine twice daily improved symptoms, and subsequent stereotactic radiosurgery ablation successfully treated the AVM. Post-treatment MRI showed reduced visibility of parasitized vessels, with controlled generalized seizures but partial control of auditory seizures.