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4 result(s) for "Gamblin, Austin S."
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Clinical utility of a blood based assay for the detection of IDH1.R132H-mutant gliomas
Glioma represents the most common central nervous system neoplasm in adults. Current classification scheme utilizes molecular alterations, particularly IDH1.R132H, to stratify lesions into distinct prognostic groups. Identification of the single nucleotide variant through traditional tissue biopsy assessment poses procedural risks and does not fully reflect the heterogeneous and evolving tumor landscape. Here, we introduce a liquid biopsy assay, mt- IDH1 dx . The blood-based test allows minimally invasive detection of tumor-derived extracellular vesicle RNA using only 2 ml plasma volume. We perform rigorous, blinded validation testing across the study population ( n  = 133), comprising of IDH1.R132H patients ( n  = 80), IDH1 wild-type gliomas ( n  = 44), and age matched healthy controls ( n  = 9). Results from our plasma testing demonstrate an overall sensitivity of 75.0% (95% CI: 64.1%–84.0%), specificity 88.7% (95% CI: 77.0%–95.7%), positive predictive value 90.9%, and negative predictive value 70.1% compared to the tissue gold standard. In addition to fundamental diagnostic applications, the study also highlights the utility of mt- IDH1 dx platform for blood-based monitoring and surveillance, offering valuable prognostic information. Finally, the optimized workflow enables rapid and efficient completion of both tumor tissue and plasma testing in under 4 hours from the time of sampling. Efficient and non-invasive, liquid biopsy methods could greatly improve the molecular classification of gliomas. Here, the authors develop an RNA-based Droplet Digital PCR assay to detect the key IDH1.R132H mutation in plasma-derived extracellular vesicles from glioma patients with high sensitivity, allowing accurate diagnosis, prognostication and longitudinal monitoring.
Cost Analysis of Inpatient Rehabilitation after Spinal Injury: A Retrospective Cohort Analysis
ObjectiveThe lifetime direct and indirect costs of spinal injury and spinal cord injury (SCI) increase as the severity of injury worsens. Despite the potential for substantial improvement in function with acute rehabilitation, the factors affecting its cost have not yet been evaluated. We used a proprietary hospital database to evaluate the direct costs of rehabilitation after spine injury.MethodsA single-center, retrospective cohort cost analysis of patients with acute, traumatic spine injury treated at a tertiary facility from 2011 to 2017 was performed.ResultsIn the 190 patients (mean age 46.1 ± 18.6 years, 76.3% males) identified, American Spinal Injury Association impairment scores on admission were 32.1% A, 14.7% B, 14.7% C, 33.2% D, and 1.1% E. Surgical treatment was performed in 179 (94.2%) cases. Most injuries were in the cervical spine (53.2%). A mean improvement of Functional Impairment Score of 30.7 ± 16.2 was seen after acute rehabilitation. Costs for care comprised facility (86.5%), pharmacy (9.2%), supplies (2.0%), laboratory (1.5%), and imaging (0.8%) categories. Injury level, injury severity, and prior inpatient surgical treatment did not affect the cost of rehabilitation. Higher injury severity (p = 0.0001, one-way ANOVA) and spinal level of injury (p = 0.001, one-way ANOVA) were associated with higher length of rehabilitation stay in univariate analysis. However, length of rehabilitation stay was the strongest independent predictor of higher-than-median cost (risk ratio = 1.56, 95% CI 1.21-2.0, p = 0.001) after adjusting for other factors.ConclusionsSpine injury has a high upfront cost of care, with greater need for rehabilitation substantially affecting cost. Improving the efficacy of rehabilitation to reduce length of stay may be effective in reducing cost.
Idiopathic chronic temporal lobe herniation with associated epilepsy
Herniation of parahippocampal gyrus is usually caused by pressure differentials intracranially, and herniation without known risk factors is extremely rare. We describe a patient with a long history of seizures and a remote status epilepticus event. On magnetic resonance imaging, a presumed left temporal lobe tumor was observed. On neurosurgical consultation, the lesion was identified as a chronic mesial temporal lobe herniation. The patient lacked history that would suggest risk of cerebral herniation. Accurately identifying the patient’s chronic temporal lobe herniation radiographically likely saved this patient from unnecessary surgery or biopsy and allowed the patient to receive appropriate conservative care.
Cerebral Arteriovenous Malformation Deep Draining Veins Not Observed on Preoperative Angiography Identified on Postoperative Angiography
Postoperative digital subtraction angiography (DSA) is the gold standard for establishing a cure of an arteriovenous malformation (AVM) after treatment. The incidence of residual AVM identified on postoperative DSA ranges from 1.8 to 11%. Although this is important for finalizing the treatment of AVMs, postoperative DSA rarely shows new findings that were not previously identified on preoperative imaging. We present a unique case where we identified residual AVM nidus on immediate postoperative DSA that drained into two deep veins that were not evident on preoperative DSA and increased the AVM grade from Spetzler-Martin grade II to III. To our knowledge, this finding has not been previously reported in the literature. We resected the residual AVM nidus identified on postoperative DSA, leading to an angiographic cure. The patient demonstrated a postoperative right-sided supplementary motor area syndrome that resolved over time with therapy. She made a complete functional recovery by her one-month follow-up appointment.Postoperative digital subtraction angiography (DSA) is the gold standard for establishing a cure of an arteriovenous malformation (AVM) after treatment. The incidence of residual AVM identified on postoperative DSA ranges from 1.8 to 11%. Although this is important for finalizing the treatment of AVMs, postoperative DSA rarely shows new findings that were not previously identified on preoperative imaging. We present a unique case where we identified residual AVM nidus on immediate postoperative DSA that drained into two deep veins that were not evident on preoperative DSA and increased the AVM grade from Spetzler-Martin grade II to III. To our knowledge, this finding has not been previously reported in the literature. We resected the residual AVM nidus identified on postoperative DSA, leading to an angiographic cure. The patient demonstrated a postoperative right-sided supplementary motor area syndrome that resolved over time with therapy. She made a complete functional recovery by her one-month follow-up appointment.