UW Neurological Surgery Recent PubMed Publications

Dravet syndrome (DS) is a severe developmental epileptic encephalopathy marked by treatment-resistant seizures, developmental delay, intellectual disability, motor deficits, and a 10 to 20% rate of premature death. Most patients with DS harbor loss-of-function mutations in one copy of SCN1A, which encodes the voltage-gated sodium channel (Na(V))1.1 alpha subunit and has been associated with inhibitory neuron dysfunction. Here, we generated a split-intein form of SCN1A and used a dual-vector...

CONCLUSIONS: TEEM esophagectomy is a safe approach with acceptable postoperative morbidity and mortality and shorter operative times compared with historical norms.

United States Special Operations Forces (SOF) experience neurobehavioral symptoms that can adversely affect training and combat operations. Understanding the neurobiological basis for these symptoms may guide prevention and treatment. In 29 male active-duty SOF with mean (SD) 17(4) years of service, we tested whether self-reported symptoms of apathy, disinhibition, and executive dysfunction measured by the Frontal Systems Behavior Scale, were related to functional magnetic resonance imaging and...

CONCLUSIONS: Intracranially infused EGFR806-CAR T cells were tolerable at tested doses, with a best response of stable disease. EGFR is a potentially useful target for cellular therapy against pediatric brain tumors, particularly high-grade gliomas.

Breathing regulation depends on a highly intricate and precise network within the brainstem, requiring the identification of all neuronal elements in the brainstem respiratory circuits and a comprehensive understanding of their organization into distinct functional compartments. These compartments play a pivotal role by providing essential input to three main targets: cranial motoneurons that regulate airway control, spinal motoneurons that activate the inspiratory and expiratory muscles, and...

Superior vena cava (SVC) syndrome is a clinical condition characterized by impaired venous return from the upper body due to intrinsic or extrinsic obstruction of the SVC. Endovascular stenting has become an effective intervention for symptomatic relief. However, the procedure carries a rare risk of life-threatening complications, including SVC perforation and cardiac tamponade. This study describes a 60-year-old male with SVC syndrome secondary to squamous cell carcinoma of the lung who...

CONCLUSIONS: Overall, patients spend an average of 16 s per item and 2 min per PRO instrument in clinical trial studies. PROs are a crucial component of clinical trial outcomes data and can be efficiently completed electronically by participants in clinical trials in a short amount of time.

Adult hydrocephalus comprises 4 pragmatic categories: (1) transition; (2) unrecognized congenital; (3) acquired; and (4) suspected idiopathic normal pressure hydrocephalus. Each of these groups has unique clinical presentations and care needs that require the involvement of adult neurosurgeons for diagnosis and treatment. Patients in all 4 of these categories benefit from longitudinal care for monitoring of their symptoms or assessing response to treatment.

In 1965, Hakim and Adams described 3 patients with normal pressure hydrocephalus who responded to treatment with a ventriculoatrial shunt. Afterward the adoption of shunt treatment without clear diagnostic criteria and surgical techniques resulted in poor outcomes with significant complications. The clinical practice guidelines for the diagnosis and treatment of idiopathic normal pressure hydrocephalus were first published by the Japanese Neurosurgical Society in 2004 and the international...

CONCLUSIONS: In this study, an international group of pediatric neurosurgeons reached consensus on 22 expert opinion-based statements regarding ACCM in pediatric patients with CM-1. Further study using a standardized approach to screening may facilitate a better understanding of the true incidence and impact of ACCM in CM-1.

Atrial fibrillation (AF) is the most common heart rhythm abnormality and is a leading cause of heart failure and stroke. This large-scale meta-analysis of genome-wide association studies increased the power to detect single-nucleotide variant associations and found more than 350 AF-associated genetic loci. We identified candidate genes related to muscle contractility, cardiac muscle development and cell-cell communication at 139 loci. Furthermore, we assayed chromatin accessibility using assay...

Cannabis legalization in the United States changed cannabis product potency and consumption modalities. Women with HIV are an aging population with prevalent cannabis use twice that of national estimates. Because cannabis use may confer both health benefits and risks, it is important to understand cannabis use patterns among women with HIV. This analysis characterized prevalence, frequencies, and modes (smoking, vaping, eating) of cannabis use among 1,246 women with HIV in the Women's...

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CONCLUSIONS: Our results reveal the significant bias relic DNA has on the quantification of low biomass samples like the skin. The reduced intraindividual similarity across samples following relic-DNA depletion highlights the bias introduced by traditional (total DNA) sequencing in diversity comparisons across samples. The divergent levels of cell viability measured across different skin sites, along with the inconsistencies in taxa differential abundance determined by total vs live cell DNA...

BACKGROUND: Venous air embolism (VAE) is a rare neurosurgical complication that occurs when air is trapped in a large, exposed vein and there is a pressure gradient that drives the air embolus from the surgical site to the right heart. This case highlights the identification and management of intraoperative VAE during transsphenoidal surgery. Additional discussion is provided on pathophysiology and best practices for reducing risk of occurrence.

CONCLUSIONS: Delirium remains a prevalent issue in Canadian ICUs, with variability in assessment and management strategies. Gaps in family engagement and pediatric-specific protocols persist. Addressing barriers like staff shortages and lack of training is critical to improving care.

GRP78, a molecular chaperone primarily located in the endoplasmic reticulum (ER), has recently been discovered to translocate into the nucleus of stressed and cancer cells where it assumes a new function reprogramming the transcriptome. This study explores the requirements of GRP78 nuclear translocation and its transcriptional activity and investigates the role of ER-associated degradation in the process. We show that the ER-processed, mature form of GRP78 is the major form of nuclear GRP78 and...

The substantia nigra pars compacta (SNpc), a midbrain region enriched with dopaminergic neurons projecting to the dorsal striatum, is essential for motor control and has been implicated in respiratory modulation. In Parkinson's disease (PD) models, the loss of SNpc dopaminergic neurons correlates with baseline respiratory deficits, suggesting a potential link between dopaminergic dysfunction and respiratory impairments. To explore this, we used adult transgenic mice (Vglut(2)^(cre) Ai6 and...

Cerebral arteriovenous malformations (AVMs) are congenital vascular anomalies that can lead to severe complications, including hemorrhage and neurological deficits. This study compares the outcomes of microsurgical resection and stereotactic radiosurgery (SRS) for SM grade I and II AVMs. Out of a large multicenter registry, we identified 180 matched patients with SM grade I and II AVMs treated with either microsurgical resection or SRS between 2010 and 2023. The primary outcomes were AVM...

Genetic knockout (KO) models are valuable tools for understanding biological functions and disease mechanisms. KO models in rats have fallen behind those in mice which limits advances in areas where rats have advantages because they can perform more complex cognitive tasks. Two widely used rat strains are Sprague Dawley (SD) and Long Evans (LE). Creating conditional KO models requires crossing Floxed and Cre lines with the constructs of interest but if they are on different genetic backgrounds,...