Mental and Social Health Commons^™

Glut3 Promotes Macrophage Signaling And Function Via Ras-Mediated Endocytosis In Atopic Dermatitis And Wound Healing, Dong-Min Yu, Jiawei Zhao, Eunice E Lee, Dohun Kim, Ruchika Mahapatra, Elysha K Rose, Zhiwei Zhou, Calvin Hosler, Abdullah El Kurdi, Jun-Yong Choe, E Dale Abel, Gerta Hoxhaj, Kenneth D Westover, Raymond J Cho, Jeffrey B Cheng, Richard C Wang

Staff and Researcher Publications

The facilitative GLUT1 and GLUT3 hexose transporters are expressed abundantly in macrophages, but whether they have distinct functions remains unclear. We confirmed that GLUT1 expression increased after M1 polarization stimuli and found that GLUT3 expression increased after M2 stimulation in macrophages. Conditional deletion of Glut3 (LysM-Cre Glut3fl/fl) impaired M2 polarization of bone marrow-derived macrophages. Alternatively activated macrophages from the skin of patients with atopic dermatitis showed increased GLUT3 expression, and a calcipotriol-induced model of atopic dermatitis was rescued in LysM-Cre Glut3fl/fl mice. M2-like macrophages expressed GLUT3 in human wound tissues as assessed by transcriptomics and costaining, and GLUT3 expression was …

The Relationship Between Parental Trauma History And Perceptions Regarding Their Child’S Healthcare And Utilization Of Healthcare Services, Krishna Patel

Theses and Dissertations

Abstract

TITLE: The Relationship Between Parental Trauma History and Perceptions Regarding Their Child’s Healthcare and Utilization of Healthcare Services

Adverse child events (ACEs) have been associated with a number of physical and mental health problems and have also been linked to increased health care utilization. While parents who have an ACE history may tend to seek healthcare services for themselves, limited studies have examined the impact of their trauma history on seeking healthcare services for their child. Healthcare utilization may also depend on the parents’ level of health anxiety, as well as their anxiety about their child’s health status. This …

Benefits Of The Enhanced Recovery After Surgery (Eras) Pathway With Quadratus Lumborum Blocks For Minimally Invasive Gynecologic Surgery Patients: A Retrospective Cohort Study, Paul S Lee, Laurie L Brunette, Intira Sriprasert, Mohamed Eloustaz, Rasika Deshpande, Crystal Adams, Laila Muderspach, Lynda Roman, Shane Dickerson, Michael P Kim

Faculty, Staff and Student Publications

STUDY OBJECTIVE: This study aimed to determine the effect of the implementation of the Enhanced Recovery After Surgery (ERAS) protocol among patients receiving minimally invasive gynecologic surgery.

DESIGN AND SETTING: This retrospective cohort study was performed in a tertiary care hospital.

PATIENTS: A total of 328 females who underwent minimally invasive gynecologic surgeries requiring at least one overnight stay at Keck Hospital of University of Southern California (USC), California, USA, from 2016 to 2020 were included in this study.

INTERVENTIONS: The institutional ERAS protocol was implemented in late 2018. A total of 186 patients from 2016 to 2018 prior to …

High Acceptability, Convenience And Reduced Carbon Emissions Of Tele-Neurology Outpatient Services At A Regional Referral Centre In Kenya, Fazal Yakub, Jasmit Shah, Dilraj Sokhi

Internal Medicine, East Africa

Background: There is severe shortage of neurologists in sub-Saharan Africa. Tele-neurology consultations (TNC) can bridge this service gap, but there is very little published evidence on TNC in our setting, which we addressed through our study.

Methods: We prospectively enrolled patients at our neurology outpatients from October 2020 to October 2021. We administered a post-TNC questionnaire which captured satisfaction/acceptability using Likert scales. A sub-group of participants who also did in-person consultations (IPC) were additionally administered post-IPC questionnaires. Statistical comparisons were made using the paired student t-test, and descriptive data expressed as median (inter-quartile range).

Results: From 219 enrolled patients, 66.7% …

Prevalence Of Depression, Anxiety And Stress After The Covid-19 Pandemic Period Among Students At The Medical University Of Sofia; Significance Of Demographic, Educational, And Pandemic-Related Variables, Nadya Avramova

Journal of Mind and Medical Sciences

This cross-sectional study aimed to determine the prevalence of depression, anxiety, and stress among undergraduate dental students at Sofia Medical University and to investigate its associations with some demographic, educational and pandemic-related variables. A self-reported questionnaire that included the validated DASS-21 scale was administered to a group of 2nd, 3rd, 4th, and 5th year students (n=70, response rate 95.7%). Results indicated abnormal levels of depression, anxiety, and stress in 34.3%, 65.7% and 59.7% of the participants, respectively. A much larger proportion of females suffered from abnormal levels of anxiety (56.6%) as compared with males (9%), p=.003. Single students exhibited significantly …

Psychological Violence And Manipulative Behavior In Couple: A Focus On Personality Traits, Carmela Mento, Clara Lombardo, Nicholas Whithorn, Maria Rosaria Anna Muscatello, Antonio Bruno, Maura Casablanca, Maria Catena Silvestri

Journal of Mind and Medical Sciences

Psychological violence is characterized by systematic denigration and humiliation of the partner (victim). It is an insidious and manipulative behavior put in place to ensure that the victim begins to doubt themselves, and their own judgments, to the point of feeling confused and wrong. This behavior pattern is called Gaslighting and the personality traits are characterized by lack of empathy, psychopathy, narcissism and Machiavellianism. These three conditions are part of the so-called dark triad and distinguished by the lack of empathy. The aim of this study is to explore psychological aspects and consequences of Gaslighting phenomena. This systematic review was …

How Peer Specialists Can Enhance A Library’S Services, Sine Rofofsky

Urban Library Journal

Peer Specialists work with others with lived experiences similar to themselves. Drawing on experiences in academic, public, school, and special libraries this article explores how skills and training of a peer specialist can enhance the services offered by a library and the work of any library staff member.

The Influence Of Attachment Styles And Mental Health Symptoms On Marital Satisfaction Among Deployed Us Army Soldiers, Leo Mora

Dissertations

Since 2002, changes in the frequency, duration, and nature of military campaigns overseas have piqued efforts to understand the effects of deployment on the mental health of DoD service members, especially married Army soldiers. However, few studies have examined the influence of attachment styles on the emotional health of combat veterans and the wartime impact they have also imparted to their spouses. Thus, in the context of military deployments, this study examines how secure/insecure attachment styles, posttraumatic stress (PTS), and depressive symptoms significantly influence married soldiers and their perceptions of marital satisfaction. In addition, this study also examines pre-existent, internalized, …

Sustaining Care Team Engagement Using A Hierarchy Of Needs Framework, Katherine Skroski, Sam Canonico, Hailey Frager, Mary Beeaker, Natalia Johnson, Rebecca A. Brookes

Operations Transformation

Cardiology Intensive Care & Cardiovascular Interventional (CICU & R9 West) teams provide superb care to critically ill cardiac patients at Maine Medical Center. Covid Pandemic revealed the importance of physical and mental health wellbeing, as well as care team engagement in order to continue to provide outstanding care to patients. CICU/R9 West Leadership looked for ways to improve team engagement and ensure that care team members’ needs are met and sustained.

A New Dietary Fiber Can Enhance Satiety And Reduce Postprandial Blood Glucose In Healthy Adults: A Randomized Cross-Over Trial, Simou Wu, Wen Jia, Huimin He, Jun Yin, Huilin Xu, Chengyuan He, Qinqiu Zhang, Yue Peng, Ruyue Cheng

Faculty, Staff and Student Publications

BACKGROUND: Dietary fiber plays a potential role in regulating energy intake and stabilizing postprandial blood glucose levels. Soluble dietary fiber has become an important entry point for nutritional research on the regulation of satiety.

METHODS: this was a double-blind, randomized cross-over trial enrolling 12 healthy subjects to compare the effects of RPG (R+PolyGly) dietary fiber products (bread, powder, and capsule) and pectin administered with a standard meal on satiety, blood glucose, and serum insulin level.

RESULTS: Adding 3.8% RPG dietary fiber to bread significantly increased the volume, water content, hardness, and chewiness of bread compared to 3.8% pectin bread and …

#Stopthestigmaem: Building A Social Media-Based Movement To Support Emergency Medicine Mental Health, Amanda J. Deutsch, Al'ai Alvarez, Stephanie Balint, Ryan D. Pappal, Stacey Roseen, Wendy W. Sun, Jonathan Warren, Kelsey Stanton, Anish K. Agarwal

Department of Emergency Medicine Faculty Papers

No abstract provided.

Houselessness And Syringe Service Program Utilization Among People Who Inject Drugs In Eight Rural Areas Across The Usa: A Cross-Sectional Analysis., April M. Ballard, Dylan Falk, Harris Greenwood, Paige Gugerty, Judith Feinberg, Peter D. Friedmann, Vivian F. Go, Wiley D. Jenkins, P. Todd Korthuis, William C. Miller, Mai T. Pho, David W. Seal, Gordon S. Smith, Thomas J. Stopka, Ryan P. Westergaard, William A. Zule, April M. Young, Hannah L. F. Cooper

Epidemiology and Environmental Health Faculty Publications

BACKGROUND: Research conducted in urban areas has highlighted the impact of housing instability on people who inject drugs (PWID), revealing that it exacerbates vulnerability to drug-related harms and impedes syringe service program (SSP) use. However, few studies have explored the effects of houselessness on SSP use among rural PWID. This study examines the relationship between houselessness and SSP utilization among PWID in eight rural areas across 10 states.

METHODS: PWID were recruited using respondent-driven sampling for a cross-sectional survey that queried self-reported drug use and SSP utilization in the prior 30 days, houselessness in the prior 6 months and sociodemographic …

Differences In Mental Wellbeing Factors Amongst College Students By Intersections Of Race/Ethnicity And Sexual Orientation/Gender, Hannah N. Schlichte

USF Tampa Graduate Theses and Dissertations

The aim of this study was to examine our understanding regarding the intersection of both racial/ethnic and sexual/gender minority identities and its impact on the mental health of college students. A secondary data analysis of the Wake Forest University Wellbeing Assessment was utilized. The total number of participants was comprised of 528 students from a large research university in the Southeastern United States. For this study, new categories representing the intersection of race/ethnicity (White, Black, Hispanic etc.) and sexual orientation/gender (LGBTQ, heterosexual, cisgender etc.) were created: double majority, single minority race/ethnicity, single minority sexual orientation/gender, and double minority. One-way ANOVA …

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 …