Preclinical use of a clinically-relevant scAAV9/SUMF1 vector for the treatment of multiple sulfatase deficiency.

Background: Multiple Sulfatase Deficiency (MSD) is a rare inherited lysosomal storage disorder characterized by loss of function mutations in the SUMF1 gene that manifests as a severe pediatric neurological disease. There are no available targeted therapies for MSD.

Methods: We engineered a viral vector (AAV9/SUMF1) to deliver working copies of the SUMF1 gene and tested the vector in Sumf1 knock out mice that generally display a median lifespan of 10 days.

Newer Treatments for Mood and Anxiety Disorders.

For more than 20 years, the mainstay of pharmacologic treatment for depression and anxiety disorders has been serotonin reuptake inhibitors and selective serotonin and norepinephrine reuptake inhibitors. There are newer medications, many with novel mechanisms of action, that have come to market; however, first-line treatments remain the same. There are now more robust data on the use of various augmentation agents in the treatment of major depressive disorder providing better recommendations for use by the primary care provider.

Geopolitical Considerations for Working with Medically Complex Patients: A Case Illustration.

Objective: Becoming culturally competent healthcare providers depends on the ability of practitioners to acquire knowledge, awareness, and skills related to other cultures. In building these areas of competence, it is essential to consider geopolitical factors that may influence health and health-seeking behaviors, particularly when working with immigrant populations. When care is sought, they are likely to experience significant barriers to effective care, including lack of providers who speak their language and failure of practitioners to integrate cultural beliefs into treatment plans.

A Quantitative Study of Transport of Surfactant Boli in a Three-Dimensional Lung Model of Neonates.

Neonatal respiratory distress syndrome is mainly treated with the intratracheal delivery of pulmonary surfactants. The success of the therapy depends on the uniformity of distribution and efficiency of delivery of the instilled surfactant solution to the respiratory zone of the lungs. Direct imaging of the surfactant distribution and quantifying the efficiency of delivery is not feasible in neonates.

Brain Stimulation Using Responsive Neurostimulation Improves Verbal Memory: A Crossover Case-Control Study.

Background: The effects of brain stimulation on memory formation in humans have shown conflicting results in previous studies. We hypothesized that direct cortical stimulation using an implanted responsive neurostimulation (RNS) system will improve memory.

Objective: To evaluate whether direct cortical stimulation using RNS improves memory as measured with recall scores of a list-learning task.