UW Neurological Surgery Recent PubMed Publications

We identified six novel de novo human KCNQ5 variants in children with motor/language delay, intellectual disability (ID), and/or epilepsy by whole exome sequencing. These variants, comprising two nonsense and four missense alterations, were functionally characterized by electrophysiology in HEK293/CHO cells, together with four previously reported KCNQ5 missense variants (Lehman A, Thouta S, Mancini GM, Naidu S, van Slegtenhorst M, McWalter K, Person R, Mwenifumbo J, Salvarinova R; CAUSES Study;...

CONCLUSIONS: Experiences of racial/ethnic discrimination are associated with different research-related outcomes across racial/ethnic groups. Efforts to engage diverse populations should prioritize access to (not willingness to participate in) health-related research.

The N-terminus domain (NTD) of the SARS-CoV-2 Omicron variant spike protien strongly induces multiple inflammatory molecules in human peripheral blood mononuclear cells, unaffected by the mutations observed in the NTD. Olverembatinib, a clinical-stage multi-kinase inhibitor, potently inhibits Omicron NTD-mediated cytokine release.

DTI literature on single-center studies contains conflicting results regarding acute effects of mTBI on WM microstructure and their prognostic significance. This larger-scale multicenter DTI study aimed to determine how acute mTBI affects WM microstructure over time and how early WM changes affect long-term outcome. From TRACK-TBI, a cohort study at eleven US level 1 trauma centers, a total of 391 acute mTBI patients ages 17-60 years were included and studied at two weeks and six months...

CONCLUSION: HR-QOL outcomes are adversely affected when compared to preoperative status and physical health demonstrates significant attrition over time. HR-QOL outcomes are worse off when compared to an age matched general population. In terms of age, advancing age is associated with worse physical component scores but emotional health may fare better than younger patients.

CONCLUSION: Based upon our population-based study, we conclude that primary site of presentation of EN-DLBCL is an important prognostic factor with significant difference in survival based on histological and epidemiological characteristics.

No abstract

The neural control of breathing involves the coordinated activity of diverse populations of medullary neurons distributed along the rostrocaudal aspect of the ventrolateral medulla. Here, we use high-density electrophysiological recordings (Neuropixels) to record spiking activity simultaneously from hundreds of neurons across the ventral respiratory column (VRC, including the Bötzinger and pre-Bötzinger complexes) in anesthetized, freely breathing mice. Across sequential recordings, we have...

GNAO1 encodes Gα(o) , a heterotrimeric G protein alpha subunit in the Gi/o family. Gα(o) , the most abundant membrane protein in the brain, mediates downstream signaling pathways by itself, or via regulating free Gβγ subunits. To determine the role of Gα(o) protein in regulating synaptic transmission, we use electrophysiology to study cerebellar molecular layer interneuron - Purkinje cell synaptic transmission in a haploinsufficient loss-of-function (LOF) Gnao1 mouse model, manifest with...

The generation of rhythmicity is a fundamental property of the nervous system. Common amongst all rhythmogenic networks is the ability to reconfigure and quickly adapt to changes in metabolic, environmental, and behavioral demands. Yet, this flexibility, and plasticity must be counter-balanced by the need to maintain stability. A group of neurons collectively known as the preBötzinger complex (preBötC) within the ventral respiratory column of the medulla assemble in a network that is both...

Elevated ketone levels have been shown to lead to improvement in diseased contexts including epilepsy, diabetes, obesity, cancer, Alzheimer's, and Parkinson's Disease. It can be difficult for many patients, especially children, to adhere to the strict and intense ketogenic diet necessary to achieve such elevation via dietary manipulation, hence why the field of metabolic therapy continues to explore the use of exogenous ketone supplementation. This preliminary pharmacodynamic study characterizes...

Non-healing wounds are a common complication from chronic disorders such as diabetes, cardiovascular diseases and cancer, among others. Impaired vascularization during the early stages of the wound healing process is a major limitation to tissue repair, and contributes to the chronification of the injury, characterized by the deposition of fibrous tissue by fibroblasts. Targeted therapeutics aimed at enhancing vascularization at the site of injury by transdifferentiating fibroblasts to...

CONCLUSIONS: Most respondents were high users of social media, particularly Instagram, YouTube, and Facebook. High users incorporated social media into their surgical education while perceiving more benefits and fewer risks of social media.

SUMMARY: In patients with severe upper extremity weakness that may result from peripheral nerve injuries, stroke, and spinal cord injuries, standard therapy in the earliest stages of recovery consists primarily of passive rather than active exercises. Adherence to prescribed therapy may be poor, which may contribute to suboptimal functional outcomes. The authors have developed and integrated a custom surface electromyography device with a video game to create an interactive, biofeedback-based...

CONCLUSION: VCD's were successfully deployed in 95.2% of the patients with 4.8% of perioperative minor complications.

No abstract

Co-occurring adversities are common for young children with child protective services (CPS) involvement, with high rates of intimate partner violence (IPV) exposure in this population. Despite extensive research linking childhood IPV exposure to later psychopathology, fewer studies have examined the prospective associations between IPV exposure and psychopathology using a dimensional approach. Here, we conducted secondary analyses of data from a randomized controlled trial of a parenting...

CONCLUSIONS: Adjustment for social determinants of health reduced racial and ethnic disparities in colorectal cancer screening among all minority racial and ethnic groups except non-Hispanic Asian individuals; however, other unmeasured confounders likely exist. See Video Abstract at http://links.lww.com/DCR/B977.

Plasmodium sporozoites invade hepatocytes and transform into liver stages within a parasitophorous vacuole (PV). The parasites then grow and replicate their genome to form exoerythrocytic merozoites that infect red blood cells. We report that the human malaria parasite Plasmodium falciparum (Pf) expresses a C-type ATP-binding cassette transporter, Pf ABCC2, which marks the transition from invasive sporozoite to intrahepatocytic early liver stage. Using a humanized mouse infection model, we show...

Idiopathic intracranial hypertension (IIH) represents a clinical disease entity without a clear etiology, that if left untreated, can result in severe outcomes, including permanent vision loss. For this reason, early diagnosis and treatment is necessary. Historically, the role of cross-sectional imaging has been to rule out secondary or emergent causes of increased intracranial pressure, including tumor, infection, hydrocephalus, or venous thrombosis. MRI and MRV, however, can serve as valuable...