Bone mineral density changes in patients on drug therapy for spinal muscular atrophy.

Patients with Spinal Muscular Atrophy (SMA) are at higher risk of diminished bone health due to decreased ambulation and mobility. With the advent of new FDA-approved therapies, we aimed to analyze the effects of SMA therapy on bone mineral density (BMD) using dual energy X-ray absorptiometry (DXA) scan data of 27 patients diagnosed with SMA Type 1, 2, or 3. Patients were divided into those with DXA scans both before and after treatment (older cohort), and patients with first DXA post-treatment (cohort treated in infancy).

Altered cortical excitability in tuberous sclerosis and the effect of mTOR inhibitors: An intracranial electrical stimulation study.

Objective: We used electrical stimulation mapping (ESM) of functional responses, after-discharges (ADs), and unwanted electrical stimulation-induced seizures (EIS) to explore differences in cortical excitability in tuberous sclerosis complex (TSC) patients on mTOR inhibitors, TSC patients not on mTOR inhibitors, and drug-resistant epilepsy (DRE) of unknown etiology.

Methods: In 20 patients with TSC and 10 patients with DRE of unknown etiology, incidence and current thresholds of physiologic (language and motor) and pathologic (ADs, EIS) responses were analyzed using mixed effects models against disease phenotype (TSC vs unknown) and use of mTOR inhibitors.

Results: Patients with TSC showed a higher incidence and required a lower threshold current to elicit motor responses and ADs compared to those with DRE of unknown etiology.

Assessing Population-Based Radiological Brain Health in Stroke Epidemiology (APRISE): Rationale and Design.

Introduction: Approximately 20% of strokes in the United States are preceded by either a stroke or transient ischemic attack (TIA). Determining which stroke patients are at higher risk for recurrence allows for individualized, aggressive secondary stroke prevention. A comprehensive clinical decision tool, considering the full spectrum of radiological brain health" including small vessel disease parameters, is currently lacking.

Language Mapping With rTMS in Healthy Pediatric Patients.

Purpose: Repetitive transcranial magnetic stimulation (rTMS) is a potentially effective, noninvasive tool for language mapping. However, there is a paucity of data in pediatric patients. In this study, we aimed to map language sites in healthy pediatric participants with navigated rTMS.