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2022

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Early Experience With Targeted Therapy As A First-Line Adjuvant Treatment For Pediatric Low-Grade Glioma., Nathan K Leclair, William Lambert, Kimberley Roche, Eileen Gillan, Joanna J Gell, Ching C Lau, Gregory Wrubel, Joshua Knopf, Shirali Amin, Megan Anderson, Jonathan E Martin, Markus J Bookland, David S Hersh Dec 2022

Early Experience With Targeted Therapy As A First-Line Adjuvant Treatment For Pediatric Low-Grade Glioma., Nathan K Leclair, William Lambert, Kimberley Roche, Eileen Gillan, Joanna J Gell, Ching C Lau, Gregory Wrubel, Joshua Knopf, Shirali Amin, Megan Anderson, Jonathan E Martin, Markus J Bookland, David S Hersh

Faculty Research 2022

OBJECTIVE: Pediatric low-grade gliomas (pLGGs) frequently exhibit dysregulation of the mitogen-activated protein kinase (MAPK) pathway. Targeted therapies, including mutant BRAF inhibitors (dabrafenib) and MEK inhibitors (trametinib), have shown promise in patients in whom conventional chemotherapy has failed. However, few studies have investigated the use of targeted therapy as a first-line treatment for pLGG. Here, the authors reviewed their institutional experience with using a personalized medicine approach to patients with newly diagnosed pLGGs.

METHODS: All pediatric patients at the authors' institution who had been treated with dabrafenib or trametinib for pLGG without first receiving conventional chemotherapy or radiation were retrospectively reviewed. …


Jax-Cnv: A Whole-Genome Sequencing-Based Algorithm For Copy Number Detection At Clinical Grade Level, Wan-Ping Lee, Qihui Zhu, Xiaofei Yang, Silvia Liu, Eliza Cerveira, Mallory Ryan, Adam Mil-Homens, Lauren Bellfy, Kai Ye, Charles Lee, Chengsheng Zhang Dec 2022

Jax-Cnv: A Whole-Genome Sequencing-Based Algorithm For Copy Number Detection At Clinical Grade Level, Wan-Ping Lee, Qihui Zhu, Xiaofei Yang, Silvia Liu, Eliza Cerveira, Mallory Ryan, Adam Mil-Homens, Lauren Bellfy, Kai Ye, Charles Lee, Chengsheng Zhang

Faculty Research 2022

We aimed to develop a whole-genome sequencing (WGS)-based copy number variant (CNV) calling algorithm with the potential of replacing chromosomal microarray assay (CMA) for clinical diagnosis. JAX-CNV is thus developed for CNV detection from WGS data. The performance of this CNV calling algorithm was evaluated in a blinded manner on 31 samples and compared to the 112 CNVs reported by clinically validated CMAs for these 31 samples. The result showed that JAX-CNV recalled 100% of these CNVs. Besides, JAX-CNV identified an average of 30 CNVs per individual, respresenting an approximately seven-fold increase compared to calls of clinically validated CMAs. Experimental …


Phenotype-Aware Prioritisation Of Rare Mendelian Disease Variants., Catherine Kelly, Anita Szabo, Nikolas Pontikos, Gavin Arno, Peter N Robinson, Jules O B Jacobsen, Damian Smedley, Valentina Cipriani Dec 2022

Phenotype-Aware Prioritisation Of Rare Mendelian Disease Variants., Catherine Kelly, Anita Szabo, Nikolas Pontikos, Gavin Arno, Peter N Robinson, Jules O B Jacobsen, Damian Smedley, Valentina Cipriani

Faculty Research 2022

A molecular diagnosis from the analysis of sequencing data in rare Mendelian diseases has a huge impact on the management of patients and their families. Numerous patient phenotype-aware variant prioritisation (VP) tools have been developed to help automate this process, and shorten the diagnostic odyssey, but performance statistics on real patient data are limited. Here we identify, assess, and compare the performance of all up-to-date, freely available, and programmatically accessible tools using a whole-exome, retinal disease dataset from 134 individuals with a molecular diagnosis. All tools were able to identify around two-thirds of the genetic diagnoses as the top-ranked candidate, …


Metformin Is Associated With Reduced Covid-19 Severity In Patients With Prediabetes., Lauren E Chan, Elena Casiraghi, Bryan Laraway, Ben D Coleman, Hannah Blau, Adnin Zaman, Nomi L Harris, Kenneth Wilkins, Blessy Antony, Michael Gargano, Giorgio Valentini, David Sahner, Melissa Haendel, Peter N Robinson, Carolyn Bramante, Justin Reese Dec 2022

Metformin Is Associated With Reduced Covid-19 Severity In Patients With Prediabetes., Lauren E Chan, Elena Casiraghi, Bryan Laraway, Ben D Coleman, Hannah Blau, Adnin Zaman, Nomi L Harris, Kenneth Wilkins, Blessy Antony, Michael Gargano, Giorgio Valentini, David Sahner, Melissa Haendel, Peter N Robinson, Carolyn Bramante, Justin Reese

Faculty Research 2022

AIMS: Studies suggest that metformin is associated with reduced COVID-19 severity in individuals with diabetes compared to other antihyperglycemics. We assessed if metformin is associated with reduced incidence of severe COVID-19 for patients with prediabetes or polycystic ovary syndrome (PCOS), common diseases that increase the risk of severe COVID-19.

METHODS: This observational, retrospective study utilized EHR data from 52 hospitals for COVID-19 patients with PCOS or prediabetes treated with metformin or levothyroxine/ondansetron (controls). After balancing via inverse probability score weighting, associations with COVID-19 severity were assessed by logistic regression.

RESULTS: In the prediabetes cohort, when compared to levothyroxine, metformin was …


Lvhn Weekly, Lehigh Valley Health Network Dec 2022

Lvhn Weekly, Lehigh Valley Health Network

LVHN Weekly

No abstract provided.


Novel Screening Tool And Considerations For Music Therapists Serving Autistic Individuals Via Telehealth: Qualitative Results From A Survey Of Clinicians’ Experiences, Nicole M. Richard Williams Dec 2022

Novel Screening Tool And Considerations For Music Therapists Serving Autistic Individuals Via Telehealth: Qualitative Results From A Survey Of Clinicians’ Experiences, Nicole M. Richard Williams

Faculty Scholarship

During the COVID-19 pandemic, music therapists transitioned services from in-person to telehealth due to health and safety concerns. Though online delivery of music therapy services for autistic individuals occurred prior to 2020, the number of North American music therapists using telehealth with autistic clients rose substantially during the pandemic. The current paper’s objective was to delineate music therapists’ perceptions regarding factors that helped or hindered autistic persons’ engagement in online music therapy sessions. One-hundred ninety-two participants completed the survey. Qualitative content analysis of an open-ended question identified seven overarching themes regarding benefits and challenges of telehealth music therapy for autistic …


Pesticide Exposure And Cortical Brain Activation Among Farmworkers In Costa Rica, Carly Hyland Dec 2022

Pesticide Exposure And Cortical Brain Activation Among Farmworkers In Costa Rica, Carly Hyland

Public and Population Health Faculty Publications and Presentations

Background: Previous epidemiological studies have reported associations of pesticide exposure with poor cognitive function and behavioral problems. However, these findings have relied primarily on neuropsychological assessments. Questions remain about the neurobiological effects of pesticide exposure, specifically where in the brain pesticides exert their effects and whether compensatory mechanisms in the brain may have masked pesticide-related associations in studies that relied purely on neuropsychological measures.

Methods: We conducted a functional neuroimaging study in 48 farmworkers from Zarcero County, Costa Rica, in 2016. We measured concentrations of 13 insecticide, fungicide, or herbicide metabolites or parent compounds in urine samples collected during two …


Increased Child Initiated Activity In Child-Centered Learning Environments, Angela Robinson Dec 2022

Increased Child Initiated Activity In Child-Centered Learning Environments, Angela Robinson

Graduate Teacher Education

Child-initiated activity in child-centered learning environments benefits the development of the whole child. Current research lends evidence that the early relationships and experiences of a child directly impact learning success (Nitecki, 2017; Fyffe et al., 2022). The indoor and outdoor environment are positioned as places for learning providing freedom and space to support health and well-being (Maynard et al., 2013). Classrooms have largely removed free play to address academic standards and high-stakes testing (Pistrova & Slutsky, 2018). This has been demonstrated by the implementation of scripted curriculum, the removal of toys such as unit blocks that foster creativity and imagination, …


Effectiveness Of 3d-Printed Upper Extremity Device For Chronic Neurological Impairment, Joe Kardine, Mba, Ms, Otr/L, Cbis, Mikael Avery, Ms, Otr/L, Alessandro Naopli, Phd, Namrata Grampurohit, Phd, Otr/L, Maryjane Mulcahey, Phd, Otr/L, Mijail Serruya, Md, Phd Dec 2022

Effectiveness Of 3d-Printed Upper Extremity Device For Chronic Neurological Impairment, Joe Kardine, Mba, Ms, Otr/L, Cbis, Mikael Avery, Ms, Otr/L, Alessandro Naopli, Phd, Namrata Grampurohit, Phd, Otr/L, Maryjane Mulcahey, Phd, Otr/L, Mijail Serruya, Md, Phd

Farber Institute for Neuroscience Staff Papers and Presentations

Report on the results of the five adults with UE mobility impairment due to stroke experiences with a lightweight, customized, powered hand orthosis. Study measures utilized were Canadian Occupational Performance Measure, Box and Blocks, and Action Research Arm Test.


South-To-North Migration Preceded The Advent Of Intensive Farming In The Maya Region, Douglas J. Kennett, Mark Lipson, Keith M. Prufer, David Mora-Marín, Richard J. George, Nadin Rohland, Mark Robinson, Willa R. Trask, Heather H. J. Edgar, Ethan C. Hill, Erin E. Ray, Paige Lynch, Emily Moes, Lexi O’Donnell, Thomas K. Harper, Emily J. Kate, Josue Ramos, John Morris, Said M. Gutierrez Dec 2022

South-To-North Migration Preceded The Advent Of Intensive Farming In The Maya Region, Douglas J. Kennett, Mark Lipson, Keith M. Prufer, David Mora-Marín, Richard J. George, Nadin Rohland, Mark Robinson, Willa R. Trask, Heather H. J. Edgar, Ethan C. Hill, Erin E. Ray, Paige Lynch, Emily Moes, Lexi O’Donnell, Thomas K. Harper, Emily J. Kate, Josue Ramos, John Morris, Said M. Gutierrez

Faculty and Student Publications

The genetic prehistory of human populations in Central America is largely unexplored leaving an important gap in our knowledge of the global expansion of humans. We report genome-wide ancient DNA data for a transect of twenty individuals from two Belize rock-shelters dating between 9,600-3,700 calibrated radiocarbon years before present (cal. BP). The oldest individuals (9,600-7,300 cal. BP) descend from an Early Holocene Native American lineage with only distant relatedness to present-day Mesoamericans, including Mayan-speaking populations. After ~5,600 cal. BP a previously unknown human dispersal from the south made a major demographic impact on the region, contributing more than 50% of …


Utah State Engineer, Fall 2022, College Of Engineering Dec 2022

Utah State Engineer, Fall 2022, College Of Engineering

College of Engineering Magazines

Annual magazine for the College of Engineering at Utah State University.


Interview With Sami Ahmed, Utah State University Special Collections & Archives Dec 2022

Interview With Sami Ahmed, Utah State University Special Collections & Archives

Utah State University COVID-19 Oral History Collection

No abstract provided.


Interview With Janet Anderson, Utah State University Special Collections & Archives Dec 2022

Interview With Janet Anderson, Utah State University Special Collections & Archives

Utah State University COVID-19 Oral History Collection

No abstract provided.


Interview With Seth Archer, Utah State University Special Collections & Archives Dec 2022

Interview With Seth Archer, Utah State University Special Collections & Archives

Utah State University COVID-19 Oral History Collection

No abstract provided.


Interview With Michelle Baker, Utah State University Special Collections & Archives Dec 2022

Interview With Michelle Baker, Utah State University Special Collections & Archives

Utah State University COVID-19 Oral History Collection

No abstract provided.


Interview With Patrick Belmont, Utah State University Special Collections & Archives Dec 2022

Interview With Patrick Belmont, Utah State University Special Collections & Archives

Utah State University COVID-19 Oral History Collection

No abstract provided.


Interview With Kirk Bird, Utah State University Special Collections & Archives Dec 2022

Interview With Kirk Bird, Utah State University Special Collections & Archives

Utah State University COVID-19 Oral History Collection

No abstract provided.


Interview With Spencer Bitner, Utah State University Special Collections & Archives Dec 2022

Interview With Spencer Bitner, Utah State University Special Collections & Archives

Utah State University COVID-19 Oral History Collection

No abstract provided.


Interview With Dan Black, Utah State University Special Collections & Archives Dec 2022

Interview With Dan Black, Utah State University Special Collections & Archives

Utah State University COVID-19 Oral History Collection

No abstract provided.


Interview With John Bostock, Utah State University Special Collections & Archives Dec 2022

Interview With John Bostock, Utah State University Special Collections & Archives

Utah State University COVID-19 Oral History Collection

No abstract provided.


Interview With Jerry Bovee, Utah State University Special Collections & Archives Dec 2022

Interview With Jerry Bovee, Utah State University Special Collections & Archives

Utah State University COVID-19 Oral History Collection

No abstract provided.


Interview With Ellis Bruch, Utah State University Special Collections & Archives Dec 2022

Interview With Ellis Bruch, Utah State University Special Collections & Archives

Utah State University COVID-19 Oral History Collection

No abstract provided.


Interview With Doug Bullock, Utah State University Special Collections & Archives Dec 2022

Interview With Doug Bullock, Utah State University Special Collections & Archives

Utah State University COVID-19 Oral History Collection

No abstract provided.


Interview With Reed Capener, Utah State University Special Collections & Archives Dec 2022

Interview With Reed Capener, Utah State University Special Collections & Archives

Utah State University COVID-19 Oral History Collection

No abstract provided.


Interview With Ray Cheatham, Utah State University Special Collections & Archives Dec 2022

Interview With Ray Cheatham, Utah State University Special Collections & Archives

Utah State University COVID-19 Oral History Collection

No abstract provided.


Interview With Noelle E. Cockett, Utah State University Special Collections & Archives Dec 2022

Interview With Noelle E. Cockett, Utah State University Special Collections & Archives

Utah State University COVID-19 Oral History Collection

No abstract provided.


Interview With Brad Cole, Utah State University Special Collections & Archives Dec 2022

Interview With Brad Cole, Utah State University Special Collections & Archives

Utah State University COVID-19 Oral History Collection

No abstract provided.


Interview With Zac Cook, Utah State University Special Collections & Archives Dec 2022

Interview With Zac Cook, Utah State University Special Collections & Archives

Utah State University COVID-19 Oral History Collection

No abstract provided.


Interview With Jeanne Davidson, Utah State University Special Collections & Archives Dec 2022

Interview With Jeanne Davidson, Utah State University Special Collections & Archives

Utah State University COVID-19 Oral History Collection

No abstract provided.


Interview With Robert Davies, Utah State University Special Collections & Archives Dec 2022

Interview With Robert Davies, Utah State University Special Collections & Archives

Utah State University COVID-19 Oral History Collection

No abstract provided.