Mobile Smartphone-Based Digital Pupillometry Curves in the Diagnosis of Traumatic Brain Injury.

Objective: The pupillary light reflex (PLR) and the pupillary diameter over time (the PLR curve) is an important biomarker of neurological disease, especially in the diagnosis of traumatic brain injury (TBI). We investigated whether PLR curves generated by a novel smartphone pupillometer application could be easily and accurately interpreted to aid in the diagnosis of TBI. Methods: A total of 120 PLR curves from 42 healthy subjects and six patients with TBI were generated by PupilScreen. Eleven clinician raters, including one group of physicians and one group of neurocritical care nurses, classified 48 randomly selected normal and abnormal PLR curves without prior training or instruction. Rater accuracy, sensitivity, specificity, and interrater reliability were calculated. Results: Clinician raters demonstrated 93% accuracy, 94% sensitivity, 92% specificity, 92% positive predictive value, and 93% negative predictive value in identifying normal and abnormal PLR curves. There was high within-group reliability (k = 0.85) and high interrater reliability (K = 0.75). Conclusion: The PupilScreen smartphone application-based pupillometer produced PLR curves for clinical provider interpretation that led to accurate classification of normal and abnormal PLR data. Interrater reliability was greater than previous studies of manual pupillometry. This technology may be a good alternative to the use of subjective manual penlight pupillometry or digital pupillometry.

Desmoplastic Infantile Ganglioglioma/Astrocytoma (DIG/DIA) Are Distinct Entities with Frequent BRAFV600 Mutations.

Desmoplastic infantile ganglioglioma (DIG) and desmoplastic infantile astrocytoma (DIA) are extremely rare tumors that typically arise in infancy; however, these entities have not been well characterized in terms of genetic alterations or clinical outcomes. Here, through a multi-institutional collaboration, the largest cohort of DIG/DIA to date is examined using advanced laboratory and data processing techniques. Targeted DNA exome sequencing and DNA methylation profiling were performed on tumor specimens obtained from different patients (n = 8) diagnosed histologically as DIG/DIGA. Two of these cases clustered with other tumor entities, and were excluded from analysis. The remaining 16 cases were confirmed to be DIG/DIA by histology and by DNA methylation profiling. Somatic BRAF gene mutations were discovered in 7 instances (43.8%); 4 were BRAFV600E mutations, and 3 were BRAFV600D mutations. Three instances of malignant transformation were found, and sequencing of the recurrence demonstrated a new TP53 mutation in one case, new ATRX deletion in one case, and in the third case, the original tumor harbored an EML4-ALK fusion, also present at recurrence. DIG/DIA are distinct pathologic entities that frequently harbor BRAFV600 mutations. Complete surgical resection is the ideal treatment, and overall prognosis is excellent. While, the small sample size and incomplete surgical records limit a definitive conclusion about the risk of tumor recurrence, the risk appears quite low. In rare cases with wild-type BRAF, malignant progression can be observed, frequently with the acquisition of other genetic alterations.Implications: DIG/DIA are a distinct molecular entity, with a subset frequently harboring either BRAF V600E or BRAF V600D mutations. Mol Cancer Res; 16(10); 1491-8. ©2018 AACR.

The use of ultrasound for postoperative monitoring of cerebral bypass grafts: A technical report.

Duplex ultrasound and transcranial Doppler are valuable tools for post-operative monitoring of extracranial-intracranial cerebral bypass grafts. Here we describe our technique for the evaluation of both high-flow and low-flow cerebral bypass grafts over a nine year period. 186 bypass grafts were studied daily during the inpatient period between Jan 2005 and Dec 2014 after surgery for various cerebrovascular pathologies. There was a technical success rate of 97%. Duplex ultrasonographic flow measurements had excellent interobserver reliability with an intraclass correlation coefficient (ICC) of 0.89 (p=0.009). Technical nuances are highlighted and a brief discussion of pathology is undertaken.