Medicine and Health Sciences Commons^™

Community Health Worker Program: Chronic Non-Communicable Diseases In Children, Julia L. Newell

DNP Qualifying Manuscripts

Abstract

Background: Childhood obesity, asthma, and untreated mental health conditions, are three examples of chronic non-communicable diseases (CNDs) that pose a host of negative consequences later in life. Community health workers (CHWs) are in a unique position to address these negative health externalities by leveraging linguistic, cultural, and socioemotional connectedness within their communities.

Local Problem: Minority children in the Central Valley of California, face additional risk factors for the development of CNDs. CHWs working in this area require enhanced training on CNDs to improve their practice.

Methods: In partnership with Save the Children (STC), the University of San Francisco (USF) …

An Integrated Evidence-Based Approach To Provide A Practicum-Based Learning Experience To Students, Dziyana Nazaruk, Joseph Telfair, Jamie S. Cromley, Joanne Chopak-Foss, Ana M. Palacios

Health Policy & Community Health: Faculty Publications

Background

Due to the challenges created by the COVID-19 pandemic, the public health field has an exceptional opportunity not only to address current challenges but also to rebuild and expand the workforce. Objectives

The main objective of this presentation is to highlight the 2018-2022 academic year's progress of the practice-based learning experience of the JPH College of Public Health at Georgia Southern University in Georgia, USA. The College serves more than 59, mostly rural counties, and involves diverse practicum preceptors, students, and existing professionals from the USA and other countries. The College provides a unique opportunity for students to develop …

Strengths, Weaknesses, Opportunities And Threats Of A Community-Based Egg Program In Rural Honduras, Lilly Karsa, Dziyana Nazaruk, G. Ramos, L. Manship, Ana M. Palacios

Health Policy & Community Health: Faculty Publications

Background

Young children living in poor rural areas in Honduras are susceptible to suffering from undernutrition. About 1 in every 4 children under age 5 have stunting. Stunting during early childhood has negative consequences on an individual's life that can have short-term and lasting effects. This study's purpose was to explore the perceptions of the mothers of children that participate in a community-based nutrition-agriculture program that offers 1 egg daily to all children ages 6 to 24 months in 13 communities. Methods

Using community-engaged methods, we implemented a SWOT analysis to identify strengths, weaknesses, opportunities, and threats using a semi-structured …

Identifying Design Opportunities For Adaptive Mhealth Interventions That Target General Well-Being: Interview Study With Informal Care Partners, Xinghui Yan, Mark W Newman, Sun Young Park, Angelle Sander, Sung Won Choi, Jennifer Miner, Zhenke Wu, Noelle Carlozzi

Faculty, Staff and Students Publications

BACKGROUND: Mobile health (mHealth) interventions can deliver personalized behavioral support to users in daily contexts. These interventions have been increasingly adopted to support individuals who require low-cost and low-burden support. Prior research has demonstrated the feasibility and acceptability of an mHealth intervention app (CareQOL) designed for use with informal care partners. To further optimize the intervention delivery, we need to investigate how care partners, many of whom lack the time for self-care, react and act in response to different behavioral messages.

OBJECTIVE: The goal of this study was to understand the factors that impact care partners' decision-making and actions in …

Reducing Burnout Among Pediatric Oncology Nurses, Karlie Devore, Madison Jarvis

Scholars Week

No abstract provided.

The Caregiver Of The Child With Cerebral Palsy: The Unnoticed Victim, Taylor Tusinski

Dissertations

The purpose of this study was to better understand the overall quality of life (QoL) in the primary caregiver who provides care to the child or adolescent, aged 0-17 with mild, moderate, or severe Cerebral Palsy (CP). This study aligned with a nonexperimental or observational design and examined the severity level of CP and the QoL in the mother and/or father.

For research question 1, regression results indicated that the overall model did not significantly predict the mother’s and father’s QoL [R² = .000, R² _adj = -.012, F(1,80) = .003, p = .957]. Regression results indicated that …

Six Week Chronic Pain Group's Impact On Relationship To Pain And Mental Health Symptoms, Samuel Sperling, Lcsw

Jefferson Hospital Staff Papers and Presentations

Introduction

A study published in May of 2023 from the National Institutes of Health (NIH) shows that “new cases of chronic pain occur more often among U.S. adults than new cases of several other common conditions, including diabetes, depression, and high blood pressure”.

Given the increasing needs for behavioral health services within the primary care landscape and the workforce shortage, it’s imperative that we consider ways to address the growing gaps in care for patients, especially those suffering with chronic pain.

This six-week group explored the impact of pain interventions (e.g., Pain Reprocessing Therapy, Cognitive Behavioral Therapy, Psychoeducation and Mindfulness) …

Fibrinogen; A Predictor Of Injury Severity And Mortality Among Patients With Traumatic Brain Injury In Sub-Saharan Africa: A Cross-Sectional Observational Study, Michael Devereaux, Martha Sajatovic

Faculty Scholarship

Studies show that fibrinogen concentrations <2 g/L in patients with traumatic brain injury (TBI) is associated with increased mortality. However, little is known regarding fibrinogen levels and TBI severity as well as mortality in sub-Saharan Africa despite shouldering a high burden of TBI. We therefore set out to determine whether fibrinogen levels are associated with TBI severity and outcome. To determine the sensitivity and specificity of fibrinogen levels and the association with severity and mortality among TBI patients at Mulago Hospital. We prospectively enrolled 213 patients with TBI aged between 13 and 60 years of age and presenting within 24 hours of injury. Patients with preexisting coagulopathy, concurrent use of anticoagulant or antiplatelet agents, preexisting hepatic insufficiency, diabetes mellitus and who were pregnant were excluded. Fibrinogen levels were determined using the Clauss fibrinogen assay. Logistic regression analyses were conducted to identify the association between fibrinogen level and 7-day outcomes. Majority of the patients were male (88.7%) and nearly half were aged 30 or less (48.8%). Fibrinogen levels <2 g/L were observed in 35.1% of the study participants. The average time spent in the study was 3.7 ± 2.4 days. The sensitivity and specificity using fibrinogen <2 g/L was 56.5% and 72.9% respectively. Fibrinogen levels predict TBI severity with an AUC = 0.656 (95% CI 0.58-0.73: P = .000) Fibrinogen levels <2 g/L (hypofibrinogenemia) were independently associated with severe TBI. (Adjusted odds ratio 2.87 CI, 1.34-6.14: P = .007). Levels above 4.5 g/L were also independently associated with injury severity (adjusted odds ratio 2.89, CI 1.12-7.48: P < .05) Fibrinogen levels more than 4.5 g/L were independently associated with mortality (OR 4.5, CI; 1.47-13.61, P < .05). The fibrinogen level is a useful tool in predicting severity including mortality of TBI. Fibrinogen levels may be used as an additional tool to screen TBI patients for injury severity especially among patients with Glasgow coma scale scores of <14.

Macrocephaly And Developmental Delay Caused By Missense Variants In Rab5c, Klaas Koop, Weimin Yuan, Federico Tessadori, Wilmer R Rodriguez-Polanco, Jeremy Grubbs, Bo Zhang, Matt Osmond, Gail Graham, Sarah Sawyer, Erin Conboy, Francesco Vetrini, Kayla Treat, Rafal Płoski, Victor Murcia Pienkowski, Anna Kłosowska, Elizabeth Fieg, Joel Krier, Coralie Mallebranche, Ziegler Alban, Kimberly A Aldinger, Deborah Ritter, Ellen Macnamara, Bonnie Sullivan, John Herriges, Joseph T Alaimo, Catherine Helbig, Colin A Ellis, Clare Van Eyk, Jozef Gecz, Daniel Farrugia, Ikeoluwa Osei-Owusu, Lesley Adès, Marie-Jose Van Den Boogaard, Sabine Fuchs, Jeroen Bakker, Karen Duran, Zachary D Dawson, Anika Lindsey, Huiyan Huang, Dustin Baldridge, Gary A Silverman, Barth D Grant, David Raizen, Undiagnosed Diseases Network, Gijs Van Haaften, Stephen C Pak, Holger Rehmann, Tim Schedl, Peter Van Hasselt

Faculty, Staff and Students Publications

Rab GTPases are important regulators of intracellular vesicular trafficking. RAB5C is a member of the Rab GTPase family that plays an important role in the endocytic pathway, membrane protein recycling and signaling. Here we report on 12 individuals with nine different heterozygous de novo variants in RAB5C. All but one patient with missense variants (n = 9) exhibited macrocephaly, combined with mild-to-moderate developmental delay. Patients with loss of function variants (n = 2) had an apparently more severe clinical phenotype with refractory epilepsy and intellectual disability but a normal head circumference. Four missense variants were investigated experimentally. In vitro biochemical …

The Effects Of Mindfulness On Depression In Dialysis Patients, Nakeia Saddler

Dissertations

Abstract

Problem: Depression is a prevailing global health issue and a typical complication of dialysis patients. This quality improvement project's purpose was to evaluate mindfulness on depression in dialysis patients, aged 18-93, who are on dialysis and participated in a mindfulness program over three months.

Methods: A descriptive, prospective, and retrospective design was used to assess depression pre- and post-implementation of a mindfulness telephone line over three months. A convenience sample of twenty adults aged 18-83 who use this hemodialysis center on Monday, Wednesday, and Friday was utilized. The Iowa Model is the framework selected to guide the implementation of …

Exploration Of Burnout, Emotional Thriving, And Emotional Recovery In An Academic Medical Center: A Mixed Methods Quality Improvement Project, Roxana Naderi, Katherine T. Morrison, Zuzanna Czernik, James E. Carter Jr, Katherine N. Dickerman, Alexandra Gallant, Lara Kirkbride-Romeo, Lauren Mcbeth, Angela Keniston, Kristin M. Jensen

Journal of Wellness

Introduction: Healthcare provider burnout, an indicator of wellbeing, impacts patient safety, provider distress, and employee turnover. In this mixed methods, multi-site quality improvement study conductedpandemic, we assessed employee wellbeing in a large clinical department.

Methods: Wellbeing surveys were sent electronically to Department of Medicine clinicians, researchers, administrators, and staff from August-September 2019 assessing perceptions of Burnout, Emotional Thriving (ET), and Emotional Recovery (ER). Qualitative responses were reviewed for themes using mixed inductive-deductive analysis. The initial coding was done by small teams with consensus obtained through large group discussions. This study was IRB-approved as non-human subjects research.

Results: Of the 671 …

The Social Anxiety Stigma Scale (Sass): Development, Factor Structure, And Validation, Ruba Rum

USF Tampa Graduate Theses and Dissertations

The primary reason people with social anxiety disorder (SAD) do not seek treatment is due to stigma concerns. Yet, our understanding of SAD stigma hinges heavily on measures that assess general mental illness stigma, which may not capture the distinct aspects of SAD. The goal of this research program was to develop and validate a measure of social anxiety stigma that assesses personal stigma towards people with SAD: the Social Anxiety Stigma Scale (SASS). The SASS was evaluated across three studies. In Study 1 (N = 221), an initial item analysis was conducted on 33 items to remove weak items …

Blood Pressure Variability And Early Neurological Outcomes In Acute And Subacute Stroke In Southwestern Uganda, Shirley M. Moore, Martha Sajatovic

Faculty Scholarship

Background: Greater blood pressure variability has detrimental effects on clinical outcome after a stroke; its effects are controversial and have not been evaluated in Sub-Saharan Africa (SSA). Methods: We conducted a prospective study of patients with CT head confirmed ischemic and hemorrhagic strokes admitted to a tertiary hospital within 7 days of onset of unilateral neurological deficits. Blood pressure variability indices, standard deviation (SD) and coefficient of variation (CV) of systolic and diastolic blood pressure between day 0 and day 7, were calculated with a subsequent modified Rankin Scale (mRS) score on day 14 post-stroke. Linear regression was performed to …

An Examination Of Death In Premier Counseling Journals, Aaron Suomala Folkerds Edd, Diane H. Coursol Ph.D.

The Interactive Journal of Global Leadership and Learning

This qualitative content analysis (QCA) examined five premier counseling journals and their coverage of death related issues from 1986-2022: Journal of Counseling and Development (JCD), Journal of Humanistic Counseling (JHC), Journal of Multicultural Counseling and Development (JMCD), Counselor Education and Supervision (CES) and Counseling and Values (CV). Of the 6180 journal articles published across all five journals, 62 articles covered death related topics. Eight major death related themes emerged through the QCA process and included: Research on Death-Related Issues, Personal Reflection and Poetry, Grief and Loss Education, Book Reviews, Responding to Campus Death, Providing Grief Counseling, DSM and Bereavement Diagnosis …

Experiences Of Kinship And Connection To Family For Aboriginal And Torres Strait Islander Young Men With Histories Of Incarceration, Shelley Joy Walker, Michael Doyle, Mark Stoové Professor, Troy Combo, Mandy Wilson

Journal of the Australian Indigenous HealthInfoNet

Epidemiological approaches have brought important attention to the issues surrounding the over-incarceration of Aboriginal and Torres Strait Islander young people, and the enormous health and socio-economic disparities they face. An implicit discourse often exists within the construction of this “knowledge”, however, that situates Aboriginal and Torres Strait Islander young people in deficit terms.

Using narrative inquiry, a methodological approach congruent with Aboriginal and Torres Strait Islander culture and ways of knowing, we aim to challenge this dominant discourse, via an examination of the narratives of eight Aboriginal Torres Strait Islander young men (aged 19-24 years) involved in the criminal justice …

Addressing The Crisis: Leveraging The United Nations Sustainable Development Goals To Prepare Student Leaders To Tackle The Opioid Epidemic, Sharon Xavioer, Laressa Bethishou, Madeline Dintzner, Reza Taheri, Jelena Lewis

Pharmacy Faculty Articles and Research

The United States faces several ongoing public health issues including the opioid epidemic. This article describes a new model aimed at providing a framework that incorporates the United Nations (UN) Sustainable Development Goals (SDGs) to develop pharmacy student leaders through education, experiences, and development of critical skills. This holistic approach can serve as an example methodology to equip future leaders across public health domains to tackle many of the critical problems we face today.

Trio-Based Gwas Identifies Novel Associations And Subtype-Specific Risk Factors For Cleft Palate, Kelsey Robinson, Trenell J Mosley, Kenneth S Rivera-González, Christopher R Jabbarpour, Sarah W Curtis, Wasiu Lanre Adeyemo, Terri H Beaty, Azeez Butali, Carmen J Buxó, David J Cutler, Michael P Epstein, Lord J J Gowans, Jacqueline T Hecht, Jeffrey C Murray, Gary M Shaw, Lina Moreno Uribe, Seth M Weinberg, Harrison Brand, Mary L Marazita, Robert J Lipinski, Elizabeth J Leslie

Faculty, Staff and Student Publications

Cleft palate (CP) is one of the most common craniofacial birth defects; however, there are relatively few established genetic risk factors associated with its occurrence despite high heritability. Historically, CP has been studied as a single phenotype, although it manifests across a spectrum of defects involving the hard and/or soft palate. We performed a genome-wide association study using transmission disequilibrium tests of 435 case-parent trios to evaluate broad risks for any cleft palate (ACP) (n = 435), and subtype-specific risks for any cleft soft palate (CSP), (n = 259) and any cleft hard palate (CHP) (n = 125). We identified …

A Covid-19-Inspired Comprehensive Approach To Resident Wellness And 360-Degree Approach To Pandemic Preparedness And Disinfection Practices, Preet Gudimella, Unnam Nasir, Heidi Pareja

Research Colloquium

The severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) outbreak that had led to the coronavirus disease 2019 (COVID-19) pandemic caused stress for medical residents on the frontline. This motivated our team to implement changes in our residency program’s inpatient service. We approached resident wellness in a comprehensive manner. The changes we implemented at our site had crucial benefits for our inpatient teams. Not only did we implement conventional best practices on infection prevention, we also executed additional safety measures, addressed mental and physical health, and had COVID-19-specific skills training. Consequently, our residents were less stressed, better prepared, and more focused …

Subventricular Zone Cytogenesis Provides Trophic Support For Neural Repair In A Mouse Model Of Stroke, Michael R Williamson, Stephanie P Le, Ronald L Franzen, Nicole A Donlan, Jill L Rosow, Mathilda S Nicot-Cartsonis, Alexis Cervantes, Benjamin Deneen, Andrew K Dunn, Theresa A Jones, Michael R Drew

Faculty, Staff and Students Publications

Stroke enhances proliferation of neural precursor cells within the subventricular zone (SVZ) and induces ectopic migration of newborn cells towards the site of injury. Here, we characterize the identity of cells arising from the SVZ after stroke and uncover a mechanism through which they facilitate neural repair and functional recovery. With genetic lineage tracing, we show that SVZ-derived cells that migrate towards cortical photothrombotic stroke in mice are predominantly undifferentiated precursors. We find that ablation of neural precursor cells or conditional knockout of VEGF impairs neuronal and vascular reparative responses and worsens recovery. Replacement of VEGF is sufficient to induce …

A Case Of Cannabis Smoking Induced Leukocytosis, Ramiro A. Rodriguez Jr., Rukayat Akande, Nevin Varghese

Research Colloquium

Background: Leukocytosis relates to infections, malignancies, stress response, and multiple intoxicants. Like other intoxicants, cannabis smoking can result in a persistent leukocytosis. Here we report a case of cannabis-induced leukocytosis.

Case Presentation: A 20-year-old Hispanic female with a history of anxiety disorder presented with 3-days of nausea, vomiting, and colicky abdominal pain. She endorsed heavy marijuana smoking as self-medication and compulsive hot showers for symptom relief. She was admitted for oral intake intolerance, concerning for cannabis hyperemesis syndrome. Her history demonstrated multiple admission for cannabis hyperemesis syndrome during which she demonstrated a leukocytosis which improved with abstinence of marijuana. Her …

Social Determinants Of Health And Disparate Disability Accumulation In A Cohort Of Black, Hispanic, And White Patients With Multiple Sclerosis, Michael C Robertson, Brian Downer, Paul E Schulz, Rafael Samper-Ternent, Elizabeth J Lyons, Sadaf Arefi Milani

Faculty, Staff and Student Publications

OBJECTIVES: Mexico has a rapidly aging population at risk for cognitive impairment. Social and leisure activities may protect against cognitive decline in older adults. The benefits of these behaviors may vary by patterns of cognitive impairment. The objectives of this study were to identify latent states of cognitive functioning, model the incidence of transitions between these states, and investigate how social and leisure activities were associated with state transitions over a 6-year period in Mexican adults aged 60 and older.

METHODS: We performed latent transition analyses to identify distinct cognitive statuses in the 2012 and 2018 waves of the Mexican …

Eeg Functional Connectivity In Infants At Elevated Familial Likelihood For Autism Spectrum Disorder, Christian O'Reilly, Scott Huberty, Stefon Van Noordt, James Desjardins, Nicky Wright, Julie Scorah, Sara Jane Webb, Mayada Elsabbagh, Basis Team

Publications

Background

Many studies have reported that autism spectrum disorder (ASD) is associated with atypical structural and functional connectivity. However, we know relatively little about the development of these differences in infancy.

Methods

We used a high-density electroencephalogram (EEG) dataset pooled from two independent infant sibling cohorts, to characterize such neurodevelopmental deviations during the first years of life. EEG was recorded at 6 and 12 months of age in infants at typical (N = 92) or elevated likelihood for ASD (N = 90), determined by the presence of an older sibling with ASD. We computed the functional connectivity between …

Super-Enhancer Hijacking Drives Ectopic Expression Of Hedgehog Pathway Ligands In Meningiomas, Mark W Youngblood, Zeynep Erson-Omay, Chang Li, Hinda Najem, Süleyman Coșkun, Evgeniya Tyrtova, Julio D Montejo, Danielle F Miyagishima, Tanyeri Barak, Sayoko Nishimura, Akdes Serin Harmancı, Victoria E Clark, Daniel Duran, Anita Huttner, Timuçin Avşar, Yasar Bayri, Johannes Schramm, Julien Boetto, Matthieu Peyre, Maximilien Riche, Roland Goldbrunner, Nduka Amankulor, Angeliki Louvi, Kaya Bilgüvar, M Necmettin Pamir, Koray Özduman, Türker Kilic, James R Knight, Matthias Simon, Craig Horbinski, Michel Kalamarides, Marco Timmer, Amy B Heimberger, Ketu Mishra-Gorur, Jennifer Moliterno, Katsuhito Yasuno, Murat Günel

Faculty, Staff and Students Publications

Hedgehog signaling mediates embryologic development of the central nervous system and other tissues and is frequently hijacked by neoplasia to facilitate uncontrolled cellular proliferation. Meningiomas, the most common primary brain tumor, exhibit Hedgehog signaling activation in 6.5% of cases, triggered by recurrent mutations in pathway mediators such as SMO. In this study, we find 35.6% of meningiomas that lack previously known drivers acquired various types of somatic structural variations affecting chromosomes 2q35 and 7q36.3. These cases exhibit ectopic expression of Hedgehog ligands, IHH and SHH, respectively, resulting in Hedgehog signaling activation. Recurrent tandem duplications involving IHH permit de novo chromatin …

Well-Being And Resilience: A Survey Of Physician Needs During Covid-19, Delta, And Omicron, Melinda M. Wilding

Research Colloquium

Background: Physician moral distress during COVID-19, Delta, and Omicron has resulted in a decrease in self-care and a reduction in empathy for patients. Determining physician well-being and resilience assists clinicians in maintaining pliancy during times of uncertainty.

Methods: An IRB quantitative survey aims to illustrate levels of moral distress, self-care tactics, and physician fortitude during the three waves of the pandemic from 2020-2022. The questionnaire elicits responses regarding how physicians have pivoted to remain healthy during the pandemic, what measures physicians have engaged in maintaining empathy and ethics towards patients, and what physicians need in the future to retain self-care. …

Epigenomic Signature Of Major Congenital Heart Defects In Newborns With Down Syndrome, Julia S Mouat, Shaobo Li, Swe Swe Myint, Benjamin I Laufer, Philip J Lupo, Jeremy M Schraw, John P Woodhouse, Adam J De Smith, Janine M Lasalle

Faculty, Staff and Students Publications

BACKGROUND: Congenital heart defects (CHDs) affect approximately half of individuals with Down syndrome (DS), but the molecular reasons for incomplete penetrance are unknown. Previous studies have largely focused on identifying genetic risk factors associated with CHDs in individuals with DS, but comprehensive studies of the contribution of epigenetic marks are lacking. We aimed to identify and characterize DNA methylation differences from newborn dried blood spots (NDBS) of DS individuals with major CHDs compared to DS individuals without CHDs.

METHODS: We used the Illumina EPIC array and whole-genome bisulfite sequencing (WGBS) to quantitate DNA methylation for 86 NDBS samples from the …

Subacute Combined Degeneration Due To Nitrous Oxide-Induced Vitamin B-12 Deficiency, Jorge Nadal, Daniela Hernandez, Brandon Cantazaro

Research Colloquium

Background: Nitrous oxide also known as “laughing gas” is a naturally occurring gas that is colorless, odorless, nonflammable, and nontoxic. It has been used as an inhalant anesthetic in the medical field for more than 150 years for dental and surgical procedures. Due to its wide availability and ability to cause euphoria, recreational use is on the rise.1 Here, I will present a case of subacute combined degeneration in the setting of nitrous oxide induced vitamin B-12 deficiency.

Case presentation: 23-year-old right-handed gentleman with no past medical history presented to the ED complaining of 1 week of bilateral lower extremity …

Improving Health Literacy Among Transgender/ Gender Non-Conforming People Using Social Media, Isha Mittal, Michelle Cordoba Kissee

Research Colloquium

Background: Health literacy has been elicited as a barrier to healthcare amongst LGBT individuals. Social media has become a popular force in transmitting health information, but often time lacks evidence-based information.

Aims/purpose: The TikTok channel GenderDefenders was created to address the lack of reliable evidence-based information for transgender and gender-non conforming (TGNC) individuals.

Methods: Data was collected from current TikTok videos that were tagged with TGNC terminology to identify gaps in knowledge and commonly asked questions. Themes were selected and educational video recordings were created using WPATH and UCSF guidelines for transgender healthcare. Some topics included what …

Hemizygous Variants In Protein Phosphatase 1 Regulatory Subunit 3f (Ppp1r3f) Are Associated With A Neurodevelopmental Disorder Characterized By Developmental Delay, Intellectual Disability And Autistic Features, Zhigang Liu, Baozhong Xin, Iris N Smith, Valerie Sency, Julia Szekely, Anna Alkelai, Alan Shuldiner, Stephanie Efthymiou, Farrah Rajabi, Stephanie Coury, Catherine A Brownstein, Sabine Rudnik-Schöneborn, Ange-Line Bruel, Julien Thevenon, Shimriet Zeidler, Parul Jayakar, Axel Schmidt, Kirsten Cremer, Hartmut Engels, Sophia O Peters, Maha S Zaki, Ruizhi Duan, Changlian Zhu, Yiran Xu, Chao Gao, Tania Sepulveda-Morales, Reza Maroofian, Issam A Alkhawaja, Mariam Khawaja, Hunaida Alhalasah, Henry Houlden, Jill A Madden, Valentina Turchetti, Dana Marafi, Pankaj B Agrawal, Ulrich Schatz, Ari Rotenberg, Joshua Rotenberg, Grazia M S Mancini, Somayeh Bakhtiari, Michael Kruer, Isabelle Thiffault, Steffen Hirsch, Maja Hempel, Lara G Stühn, Tobias B Haack, Jennifer E Posey, James R Lupski, Hyunpil Lee, Nicholas B Sarn, Charis Eng, Claudia Gonzaga-Jauregui, Bin Zhang, Heng Wang

Faculty, Staff and Students Publications

Protein phosphatase 1 regulatory subunit 3F (PPP1R3F) is a member of the glycogen targeting subunits (GTSs), which belong to the large group of regulatory subunits of protein phosphatase 1 (PP1), a major eukaryotic serine/threonine protein phosphatase that regulates diverse cellular processes. Here, we describe the identification of hemizygous variants in PPP1R3F associated with a novel X-linked recessive neurodevelopmental disorder in 13 unrelated individuals. This disorder is characterized by developmental delay, mild intellectual disability, neurobehavioral issues such as autism spectrum disorder, seizures and other neurological findings including tone, gait and cerebellar abnormalities. PPP1R3F variants segregated with disease in affected hemizygous males …

Intracranial Stimulation And Eeg Feature Analysis Reveal Affective Salience Network Specialization, Brian A Metzger, Prathik Kalva, Madaline M Mocchi, Brian Cui, Joshua A Adkinson, Zhengjia Wang, Raissa Mathura, Kourtney Kanja, Jay Gavvala, Vaishnav Krishnan, Lu Lin, Atul Maheshwari, Ben Shofty, John F Magnotti, Jon T Willie, Sameer A Sheth, Kelly R Bijanki

Faculty, Staff and Students Publications

Emotion is represented in limbic and prefrontal brain areas, herein termed the affective salience network (ASN). Within the ASN, there are substantial unknowns about how valence and emotional intensity are processed-specifically, which nodes are associated with affective bias (a phenomenon in which participants interpret emotions in a manner consistent with their own mood). A recently developed feature detection approach ('specparam') was used to select dominant spectral features from human intracranial electrophysiological data, revealing affective specialization within specific nodes of the ASN. Spectral analysis of dominant features at the channel level suggests that dorsal anterior cingulate (dACC), anterior insula and ventral-medial …

Symptomatic Obstructive Hydrocephalus Caused By Choroid Plexus Hyperplasia In A Pediatric Patient: Illustrative Case, Ana Sofia Alvarez, John P Mcginnis, Rajan Patel, Howard L Weiner

Faculty, Staff and Students Publications

BACKGROUND: Choroid plexus hyperplasia has been described as a rare cause of communicating hydrocephalus due to cerebrospinal fluid (CSF) overproduction. However, this is the first report of symptomatic obstructive hydrocephalus caused by mechanical obstruction of the aqueduct by a hyperplastic choroid plexus.

OBSERVATIONS: A 4-year-old male presented with headaches and intermittent emesis. Magnetic resonance imaging (MRI) of the brain showed abnormal enlargement of the choroid plexus in the lateral ventricles with extension into the third ventricle, resulting in obstruction of the aqueduct of Sylvius, leading to obstructive hydrocephalus. Endoscopic third ventriculostomy (ETV) was chosen as the surgical treatment. During the …