GM1 gangliosidosis is an ultra-rare inherited neurodegenerative lysosomal storage disorder caused by biallelic mutations in the gene. GM1 is uniformly fatal and has no approved therapies, although clinical trials investigating gene therapy as a potential treatment for this condition are underway. Novel outcome measures or biomarkers demonstrating the longitudinal effects of GM1 and potential recovery due to therapeutic intervention are urgently needed to establish efficacy of potential therapeutics.
View Article and Find Full Text PDFBackground: Diagnosing and treating acute ischemic stroke patients within a narrow timeframe is challenging. Time needed to access the occluded vessel and initiate thrombectomy is dictated by the availability of information regarding vascular anatomy and trajectory. Absence of such information potentially impacts device selection, procedure success, and stroke outcomes.
View Article and Find Full Text PDFBackground And Objectives: Vascular disease is a known risk factor for Alzheimer's disease (AD). Endothelial dysfunction has been linked to reduced cerebral blood flow. Endothelial nitric oxide synthase pathway (eNOS) upregulation is known to support endothelial health.
View Article and Find Full Text PDFPelvic pain and vaginal bleeding are common symptoms in postpartum women presenting to the emergency room (ER). Pelvic ultrasonography plays a crucial role in evaluating symptomatic postpartum patients by allowing a rapid diagnosis and treatment initiation. The main goal of imaging is to distinguish between causes of pelvic pain and vaginal bleeding that may be managed conservatively and those requiring emergent intervention.
View Article and Find Full Text PDFQuantifying the extent and evolution of cerebral edema developing after stroke is an important but challenging goal. Lesional net water uptake (NWU) is a promising CT-based biomarker of edema, but its measurement requires manually delineating infarcted tissue and mirrored regions in the contralateral hemisphere. We implement an imaging pipeline capable of automatically segmenting the infarct region and calculating NWU from both baseline and follow-up CTs of large-vessel occlusion (LVO) patients.
View Article and Find Full Text PDFAntithrombotic medications may increase the risk and severity of traumatic intracranial hemorrhage (tICH) after minor head trauma. The purpose of this study was to determine the frequency, distribution, and clinical course of tICH in patients receiving antithrombotic therapy who present with good neurologic status after a ground-level fall. This retrospective study included 1630 patients (693 women and 937 men; mean age, 80.
View Article and Find Full Text PDFTay-Sachs disease (TSD) is an inherited neurological disorder caused by deficiency of hexosaminidase A (HexA). Here, we describe an adeno-associated virus (AAV) gene therapy expanded-access trial in two patients with infantile TSD (IND 18225) with safety as the primary endpoint and no secondary endpoints. Patient TSD-001 was treated at 30 months with an equimolar mix of AAVrh8-HEXA and AAVrh8-HEXB administered intrathecally (i.
View Article and Find Full Text PDFUltrasonography is often the initial modality used to evaluate patients found to have abnormal liver function tests (LFTs) in the emergency department. While an assessment for biliary ductal dilatation and obstruction remains one of the main questions to answer, radiologists should also be aware of the ultrasonographic appearance of other conditions that can cause abnormal LFTs. This may be crucial for the management and disposition of patients in the emergency department.
View Article and Find Full Text PDFBackground: High-frequency optical coherence tomography (HF-OCT) is an intra-vascular imaging technique capable of assessing device-vessel interactions at spatial resolution approaching 10 µm. We tested the hypothesis that adequately deployed Woven EndoBridge (WEB) devices as visualized by HF-OCT lead to higher aneurysm occlusion rates.
Methods: In a leporine model, elastase-induced aneurysms (n=24) were treated with the WEB device.
In 2015, multiple randomized clinical trials showed an unparalleled treatment benefit of stent-retriever thrombectomy as compared to standard medical therapy for the treatment of a large artery occlusion causing acute ischemic stroke. A short time later, the HERMES collaborators presented the patient-level pooled analysis of five randomized clinical trials, establishing class 1, level of evidence A for stent-retriever thrombectomy, in combination with intravenous thrombolysis when indicated to treat ischemic stroke. In the years following, evidence continues to mount for expanded use of this therapy for a broader category of patients.
View Article and Find Full Text PDF