Open Access. Powered by Scholars. Published by Universities.®

Medicine and Health Sciences Commons™

Open Access. Powered by Scholars. Published by Universities.®

Discipline
Institution
Keyword
Publication Year
Publication
Publication Type
File Type

Articles 74311 - 74340 of 325571

Full-Text Articles in Medicine and Health Sciences

The Form, Function, And Meaning Of Creative Expression, Sierra Strain, Susan Macdermott Aug 2023

The Form, Function, And Meaning Of Creative Expression, Sierra Strain, Susan Macdermott

Summer 2023 Virtual OTD Capstone Symposium

This project consists of school site observations and needs assessment data used to gain a better understanding of the various types of creative expression engaged in during the school day and to determine the form, function, and meaning of creative expression to students at a school for students with learning differences. This study discusses to the creation of a creative expression program created to help meet the sensory need demonstrated by this population of students on campus throughout the school day. The importance of zentangle based art use as a sensory regulation strategy in a school setting is discussed as …


Exploring The Post-Surgical Needs Of Guatemalan Children And Their Families From Low Socioeconomic Status (Ses) Communities Using An Occupational Therapy Perspective, Diana Del Carmen Tojin Romero, Karen Aranha, Angela Labrie Blackwell Aug 2023

Exploring The Post-Surgical Needs Of Guatemalan Children And Their Families From Low Socioeconomic Status (Ses) Communities Using An Occupational Therapy Perspective, Diana Del Carmen Tojin Romero, Karen Aranha, Angela Labrie Blackwell

Summer 2023 Virtual OTD Capstone Symposium

Background: Despite a decline in infant mortality rates in the Global South (GS), there has been a rise in congenital and developmental disabilities. International short-term medical (ISTM) missions in Guatemala seek to address the surgical needs of children from low SES communities, but the understanding of the impacts of such assistance and the post-surgical needs of these communities remains limited. Embracing the Human Rights-Based Approach (HRBA) to healthcare as a foundation for this study recognizes health as a fundamental human right. The main tenets of this approach will guide this investigation to understand the post-surgical needs of children and their …


Analyzing Experiences With Context-Based Physical Activity Coaching (Cb-Pac) In Caregivers Of Children With Visual Impairments: A Pilot Study, Mary Godman, Angela Blackwell, Eric Hicks Aug 2023

Analyzing Experiences With Context-Based Physical Activity Coaching (Cb-Pac) In Caregivers Of Children With Visual Impairments: A Pilot Study, Mary Godman, Angela Blackwell, Eric Hicks

Summer 2023 Virtual OTD Capstone Symposium

Caregivers have faced many barriers in providing equitable physical activity (PA) opportunities for their children with visual impairments (VI) (Armstrong et al., 2018; Columna et al., 2017; Sterbova & Kudlacek, 2014). This pilot study focused on two female caregivers of children with VI to understand their experiences and perceptions related to providing PA for their children along with a context-based coaching program to improve their child’s participation in PA. The study utilized a mixed methods design and concluded that support, motivation, strategies for participation, and equipment were important areas to address for caregivers to engage their children in PA.


Occupational Barriers In Attendance Of Diabetes Prevention Programs In Adults Of Low Socioeconomic Status, Kendra Green, Amy Lyons-Brown Aug 2023

Occupational Barriers In Attendance Of Diabetes Prevention Programs In Adults Of Low Socioeconomic Status, Kendra Green, Amy Lyons-Brown

Summer 2023 Virtual OTD Capstone Symposium

The purpose of this project was to meet the needs of adults of low socioeconomic status that are at risk for developing diabetes due to multiple occupational barriers through evidence-based interventions developed by Occupational Therapists. Reflecting on current literature on the social determinants of health can help clients achieve a better quality of life. It addressed the specific barriers in an individual’s lifestyle and community resources faced daily in occupations such as managing finances, shopping, sleeping, cooking, and eating healthier, along with utilizing physical activity to prevent diabetes. OT is underutilized in this area even though the expertise is needed …


A Manualized Occupational Therapy Module On Cognitive Defusion For People With Ptsd, Joshua Mimun, Steven M. Gerardi Aug 2023

A Manualized Occupational Therapy Module On Cognitive Defusion For People With Ptsd, Joshua Mimun, Steven M. Gerardi

Summer 2023 Virtual OTD Capstone Symposium

CD has been identified as a treatment module that should be included in a manualized OT protocol for people with PTSD but had not yet been developed. Thus, the purpose of this capstone project is to create a manualized OT treatment module on CD for people with PTSD.


Creciendo Y Floreciendo Dentro De Nuestro Ambiente: A Contextual Intervention With Latino Parents Who Have Children Diagnosed With Autism Spectrum Disorder (Asd), Jocelyn Urbina, Erik Pérez, Angela Labrie Blackwell Aug 2023

Creciendo Y Floreciendo Dentro De Nuestro Ambiente: A Contextual Intervention With Latino Parents Who Have Children Diagnosed With Autism Spectrum Disorder (Asd), Jocelyn Urbina, Erik Pérez, Angela Labrie Blackwell

Summer 2023 Virtual OTD Capstone Symposium

According to the Center for Disease Control and Prevention (CDC) (2021), 1 in 44 children has been identified with autism-spectrum disorder (ASD). Children with ASD experience challenges in participation that is characterized by difficulties in areas of social communication, social interaction, repetitive behavior, and a range of impairing sensory interests or aversions (Pasco, 2018). These challenges can limit their participation in occupations if not addressed within time as well as put stress on the child’s parents or caregivers. Parents who have children with ASD experience higher elevated levels of parental stress and psychological distress when compared to parents who have …


The Perceived Benefits Of Belonging To A Community Organization For People With Parkinson's Disease (Pwpd): An Ethnographic Study, Alexis Fortes, Mary Ann Smith, Karen Aranha, Kelli Cabrera Aug 2023

The Perceived Benefits Of Belonging To A Community Organization For People With Parkinson's Disease (Pwpd): An Ethnographic Study, Alexis Fortes, Mary Ann Smith, Karen Aranha, Kelli Cabrera

Summer 2023 Virtual OTD Capstone Symposium

Background: Persons with Parkinson’s (PwPD) seek to age in place and slow the functional decline that comes with the disease process. Membership in community-based and fitness programs provides a social safe environment that significantly impacts an individual’s psychological well-being and occupational independence. The American Occupational Therapy Association (AOTA) supports and promotes partnering with community organizations that promote and valuemaintaining occupational independence for community dwellers.

Objective: This study investigated the perceived benefits of belonging to a community organization that supports health management and well-being for PwPD.

Methods: A qualitative ethnographic study used immersive participant observation, and conducted two …


Occupational Therapy's Role In Providing Gender-Affirming Care For Transgender And Gender Diverse Individuals, Anna Rhodes, Mary A. Smith, Kristin Willey Aug 2023

Occupational Therapy's Role In Providing Gender-Affirming Care For Transgender And Gender Diverse Individuals, Anna Rhodes, Mary A. Smith, Kristin Willey

Summer 2023 Virtual OTD Capstone Symposium

There is limited information, education, and training available on providing care for the transgender and gender-diverse population, and many healthcare providers lack the specific knowledge needed to provide adequate, culturally competent care. A needs assessment was conducted to better understand what healthcare practitioners wanted to know regarding this topic, as well as what trans and gender-diverse individuals wanted their healthcare practitioners to know about their care. This needs assessment was anonymous and answers were not published. The responses were analyzed by the author to identify themes and develop learning objectives for the creation of educational materials. Five educational modules were …


Evidence Based Practices To Guide Practitioners On Providing Racially Informed Care (Ric): A Scoping Review, Veronica Ajose, Angela Labrie Blackwell, Charae Mcconnell Aug 2023

Evidence Based Practices To Guide Practitioners On Providing Racially Informed Care (Ric): A Scoping Review, Veronica Ajose, Angela Labrie Blackwell, Charae Mcconnell

Summer 2023 Virtual OTD Capstone Symposium

All forms of racism impact the health, well-being, safety, and occupations of Black, Indigenous, and People of Color (BIPOC). There is a gap in Occupational Therapy (OT) curricula and literature on how practitioners should address the issue of racism. This presentation presents the background, problem, purpose, methods, results, and implications for occupational therapy practice for a scoping review that sought to review sought to identify and synthesize interventions that align with Racially Informed Care (RIC).


The Occupation Of Surfing By Black, Indigenous, And People Of Color Communities As A Form Of Resistance, Emily Robleza, Karen Park Aug 2023

The Occupation Of Surfing By Black, Indigenous, And People Of Color Communities As A Form Of Resistance, Emily Robleza, Karen Park

Summer 2023 Virtual OTD Capstone Symposium

This study explores the concept of resistance through a qualitative research study by focusing on the occupation of surfing by Black, Indigenous, and People of Color. The concept and acts of resistance have seldom been discussed in occupational science literature in addressing these communities' barriers. The frameworks include occupational justice, postcolonialism, and collective occupations that provide a layout of why and how current grass-roots efforts of communities marginalized from a meaningful activity utilize the meaningful activity as a vehicle for liberation. Eight participants were interviewed to understand their individual experiences in surfing in Southern California. Themes include Race, Class, and …


Leisure Exploration For Individuals Recovering From Substance Use Disorder, Laura Head, Susan Macdermott Otd, Otr/L Aug 2023

Leisure Exploration For Individuals Recovering From Substance Use Disorder, Laura Head, Susan Macdermott Otd, Otr/L

Summer 2023 Virtual OTD Capstone Symposium

Individuals in recovery from a substance use disorder often report feeling the desire to fill their time with meaning and that time they spent misusing substances was unfulfilling. This poster provides background on what a substance use disorder is and the effects it may have on a person's life. It also dives into the methods used to create, propose, and implement a creative expression group for homeless transitional-aged youth, 18-25, and an exercise group for individuals in recovery from SUD. Finally, this poster discusses the implications of implementing and maintaining programs occupational therapist lead programs in community mental health settings.


Enhance The Use Of Arts, Crafts, And Creative Expression Within Ot Practice, Genevieve England, Susan Macdermott Aug 2023

Enhance The Use Of Arts, Crafts, And Creative Expression Within Ot Practice, Genevieve England, Susan Macdermott

Summer 2023 Virtual OTD Capstone Symposium

Through the evolution of occupational therapy, the presence of arts and crafts within the profession has decreased. It is a possibility that the cause stems from lack of exposure to crafts, decreased craft related coursework within OT school programming, as well as the shift towards medical model-based OT interventions. The purpose of this project was to gain an understanding of arts and crafts and/or creative expression within OT practice in order to create an effective program.


A Dance Program Focused On Health Promotion, Nadalie Valdez, Jazminne Orozco Arteaga Aug 2023

A Dance Program Focused On Health Promotion, Nadalie Valdez, Jazminne Orozco Arteaga

Summer 2023 Virtual OTD Capstone Symposium

This capstone project aimed to develop a dance program focused on health promotion, with the intent to encourage physical, mental, and social-emotional well-being. In response to the rise in childhood obesity and associated comorbidities, especially among underserved communities, the goal of this project was to provide opportunities for children of all backgrounds to establish healthy habits and routines.


Emergency Department To Medical Telemetry Bed Flow Optimization, Anne Rochelle P. Taco Aug 2023

Emergency Department To Medical Telemetry Bed Flow Optimization, Anne Rochelle P. Taco

Master's Projects and Capstones

Abstract

Background: The setting for this quality improvement project is a 22-bed medical telemetry unit that receives approximately 85% of ED admissions. The capacity challenges are one of the major causes of ED admissions beyond the 60-minute benchmark. To create capacity, discharges should happen earlier on the day or before 1:00 p.m. to be able to admit patients within 60 minutes from when the physician writes an order to patient transfer to the telemetry unit.

Problem: Patients are being boarded in the ED for extended times while waiting for an inpatient bed assignment. Longer boarding time in the ED is …


Rho Enhancers Play Unexpectedly Minor Roles In Rhodopsin Transcription And Rod Cell Integrity, Chi Sun, Philip A Ruzycki, Shiming Chen Aug 2023

Rho Enhancers Play Unexpectedly Minor Roles In Rhodopsin Transcription And Rod Cell Integrity, Chi Sun, Philip A Ruzycki, Shiming Chen

2020-Current year OA Pubs

Enhancers function with a basal promoter to control the transcription of target genes. Enhancer regulatory activity is often studied using reporter-based transgene assays. However, unmatched results have been reported when selected enhancers are silenced in situ. In this study, using genomic deletion analysis in mice, we investigated the roles of two previously identified enhancers and the promoter of the Rho gene that codes for the visual pigment rhodopsin. The Rho gene is robustly expressed by rod photoreceptors of the retina, and essential for the subcellular structure and visual function of rod photoreceptors. Mutations in RHO cause severe vision loss in …


Leser-Trélat Sign As A Marker For Underlying Pancreatic Cancer, Kalpit Modi, Richard Chen, Layla Abubshait Aug 2023

Leser-Trélat Sign As A Marker For Underlying Pancreatic Cancer, Kalpit Modi, Richard Chen, Layla Abubshait

Einstein Health Papers

Case Presentation: Early diagnosis and rapid treatment of cancer is essential for good clinical outcomes for patients. In this case, an 85-year-old man presented with failure to thrive and was noted to have rapid-onset, multiple seborrheic keratoses (Leser-Trélat sign) on his chest and back. He was ultimately diagnosed with pancreatic cancer using computed tomography.

Discussion: Leser-Trélat sign is a rare cutaneous marker for underlying malignancy. Identification of this sign can help guide diagnostic imaging and lab work to identify an occult internal malignancy, resulting in more rapid diagnosis, earlier treatment, and potentially better clinical outcomes.


Enhancing Long-Term Outcomes: Implementing Community Engaged Research To Augment Substance Use Disorder Treatment, Kevin M. Quinn Aug 2023

Enhancing Long-Term Outcomes: Implementing Community Engaged Research To Augment Substance Use Disorder Treatment, Kevin M. Quinn

Masters Theses

The Universal Evaluation Tool is an intuitive self-assessment instrument to enhance long-term treatment outcomes for Guiding Light’s residential addiction rehabilitation program. Designed as a versatile method for collecting primary data, the Universal Evaluation Tool can be administered to clients at any point during the recovery program (i.e., intake to discharge). The data collected from the survey can be used as a framework to guide treatment decisions, develop personalized care plans, offer insight into a client’s progress, and collect baseline data (e.g., sociodemographic characteristics) on a treatment population for use in grant applications.

A pilot study to generate preliminary data was …


Reducing Hospital-Acquired Clostridium Difficile, Tracy Esposo Aug 2023

Reducing Hospital-Acquired Clostridium Difficile, Tracy Esposo

Master's Projects and Capstones

Background: This project focused on implementation of clostridium difficile (C. diff) education sessions at Hospital A, a not-for-profit, short-term, acute care hospital serving the Greater Sacramento community. It comprises of 241 staffed beds in the medical-surgical, telemetry, and intensive care units.

Problem: My Clinical Nurse Leader project focused on preventing hospital-acquired C. diff. At Hospital A, there were 19 hospital-acquired C. diff cases for the 2022 performance year. Of the 19 clostridium difficile cases, 12 were related to C. diff testing criteria fall-outs.

Despite huddling with staff on opportunities and providing education through health stream modules, Hospital A continues to …


Estimation Of Health Risks Caused By Metals Contained In E-Cigarette Aerosol Through Passive Vaping, Wei-Chung Su, Jinho Lee, Kai Zhang, Su-Wei Wong, Anne Buu Aug 2023

Estimation Of Health Risks Caused By Metals Contained In E-Cigarette Aerosol Through Passive Vaping, Wei-Chung Su, Jinho Lee, Kai Zhang, Su-Wei Wong, Anne Buu

Faculty, Staff and Student Publications

It is expected that secondary exposure to e-cigarette aerosol (passive vaping) will soon become an issue of public health. Passive vaping inhales e-cigarette aerosol containing similar harmful substances as active vaping. However, parallel studies on passive vaping are minimal. Therefore, there is a need for passive vaping-related health risk studies to assess the impact of vaping on public health. This research conducted a series of experiments in a room using a puffing machine and the Mobile Aerosol Lung Deposition Apparatus (MALDA) to study e-cigarette aerosol respiratory deposition through passive vaping. The experimental data acquired were applied to estimate the deposited …


Analyzing Reporting Of Hospital Acquired Pressure Injuries In The Acute Care Setting, Trineca R-N Godfrey, Gabriella Garcia, Ameerah Tolentino, Gisselle Chairez, Jane Kwak Aug 2023

Analyzing Reporting Of Hospital Acquired Pressure Injuries In The Acute Care Setting, Trineca R-N Godfrey, Gabriella Garcia, Ameerah Tolentino, Gisselle Chairez, Jane Kwak

Master's Projects and Capstones

This project was conducted at a level one trauma center, acute care hospital consisting of 459 beds. With more patients than wound care nurses, hospital-acquired pressure injuries (HAPIs) have become a significant problem for this hospital. A gap between reporting in the Safety and Quality Information System (SQIS) and the reporting that takes place in electronic health record (EHR) with wound care consults has been observed. A root cause analysis (RCA) was used to identify discrepancies. The accurate collection of data was identified as paramount providing information necessary to create improvements and lower the occurrence of HAPIs. The conceptual framework …


Real-World Experience Of Patients With Multiple Myeloma Receiving Ide-Cel After A Prior Bcma-Targeted Therapy, Christopher J Ferreri, Michelle A T Hildebrandt, Hamza Hashmi, Leyla O Shune, Joseph P Mcguirk, Douglas W Sborov, Charlotte B Wagner, M Hakan Kocoglu, Aaron Rapoport, Shebli Atrash, Peter M Voorhees, Jack Khouri, Danai Dima, Aimaz Afrough, Gurbakhash Kaur, Larry D Anderson, Gary Simmons, James A Davis, Nilesh Kalariya, Lauren C Peres, Yi Lin, Murali Janakiram, Omar Nadeem, Melissa Alsina, Frederick L Locke, Surbhi Sidana, Doris K Hansen, Krina K Patel, Omar Alexis Castaneda Puglianini Aug 2023

Real-World Experience Of Patients With Multiple Myeloma Receiving Ide-Cel After A Prior Bcma-Targeted Therapy, Christopher J Ferreri, Michelle A T Hildebrandt, Hamza Hashmi, Leyla O Shune, Joseph P Mcguirk, Douglas W Sborov, Charlotte B Wagner, M Hakan Kocoglu, Aaron Rapoport, Shebli Atrash, Peter M Voorhees, Jack Khouri, Danai Dima, Aimaz Afrough, Gurbakhash Kaur, Larry D Anderson, Gary Simmons, James A Davis, Nilesh Kalariya, Lauren C Peres, Yi Lin, Murali Janakiram, Omar Nadeem, Melissa Alsina, Frederick L Locke, Surbhi Sidana, Doris K Hansen, Krina K Patel, Omar Alexis Castaneda Puglianini

Faculty, Staff and Student Publications

Most patients with multiple myeloma experience disease relapse after treatment with a B-cell maturation antigen-targeted therapy (BCMA-TT), and data describing outcomes for patients treated with sequential BCMA-TT are limited. We analyzed clinical outcomes for patients infused with standard-of-care idecabtagene vicleucel, an anti-BCMA chimeric antigen receptor (CAR) T-cell therapy, at 11 US medical centers. A total of 50 patients with prior BCMA-TT exposure (38 antibody-drug conjugate, 7 bispecific, 5 CAR T) and 153 patients with no prior BCMA-TT were infused with ide-cel, with a median follow-up duration of 4.5 and 6.0 months, respectively. Safety outcomes between cohorts were comparable. The prior …


Investigating Transcriptional Anomalies During Persistence In Chlamydia Trachomatis, Nathan D. Hatch Aug 2023

Investigating Transcriptional Anomalies During Persistence In Chlamydia Trachomatis, Nathan D. Hatch

Theses & Dissertations

Chlamydia trachomatis (Ctr) is the leading cause of bacterial sexually transmitted infections. Ctr, a Gram-negative, obligate intracellular bacterium, develops within a membrane-bound vacuole termed an inclusion. This protective, nutrient rich, intracellular environment has allowed Ctr to undergo extensive reductive evolution – resulting in a streamlined genome of approximately 1 Mbp and the loss or fragmentation of several biosynthetic pathways, including the ability to synthesize tryptophan (Trp) de novo. During infection, the host immune system releases the cytokine IFNγ. Upon binding to a host cell, IFNγ stimulates the expression of indoleamine-2,3-dioxygenase, an enzyme capable of catabolizing cytosolic Trp, thereby starving …


Dimethyl Sulfoxide Inhibits Bile Acid Synthesis In Healthy Mice But Does Not Protect Mice From Bile-Acid-Induced Liver Damage, Xi Chen, Huiqiao Li, Yu'e Liu, Jing Qi, Bingning Dong, Shixia Huang, Shangang Zhao, Yi Zhu Aug 2023

Dimethyl Sulfoxide Inhibits Bile Acid Synthesis In Healthy Mice But Does Not Protect Mice From Bile-Acid-Induced Liver Damage, Xi Chen, Huiqiao Li, Yu'e Liu, Jing Qi, Bingning Dong, Shixia Huang, Shangang Zhao, Yi Zhu

Faculty, Staff and Students Publications

Bile acids serve a vital function in lipid digestion and absorption; however, their accumulation can precipitate liver damage. In our study, we probed the effects of dimethyl sulfoxide (DMSO) on bile acid synthesis and the ensuing liver damage in mice induced by bile acids. Our findings indicate that DMSO efficaciously curbs bile acid synthesis by inhibiting key enzymes involved in the biosynthetic pathway, both in cultured primary hepatocytes and in vivo. Contrarily, we observed that DMSO treatment did not confer protection against bile-acid-induced liver damage in two distinct mouse models: one induced by a 0.1% DDC diet, leading to bile …


Early Mobility In The Intensive Care Unit, Kimberly Masse Aug 2023

Early Mobility In The Intensive Care Unit, Kimberly Masse

Master's Projects and Capstones

Abstract

Problem: Within the intensive care unit (ICU) environment, the inconsistent implementation of early mobility practices poses a significant challenge, resulting in suboptimal patient outcomes. This quality improvement project addressed the critical issue of lower mobility scores and the barriers faced in promoting early mobilization due to the complex nature of the ICU, including the patient population and therapeutic interventions.

Context: Situated in a 327-bed hospital, the 20-bed ICU caters to critically ill patients with diverse diagnoses, such as stroke, heart failure, sepsis, and Covid pneumonia. The ICU staff comprises registered nurses (RNs), patient care technicians (PCTs), and other …


Implementation Of A Wellness Program For Nurse Leaders, Ericson A. Fernando Aug 2023

Implementation Of A Wellness Program For Nurse Leaders, Ericson A. Fernando

Master's Projects and Capstones

Background: The setting for this study is the implementation of a wellness program for nurse leaders at Hospital A, a healthcare organization servicing the South Sacramento area in California. Healthcare is a challenging and high-demand profession, and the COVID-19 pandemic has exacerbated an issue of burnout and unwavering job-related stress for physicians and employees. This remains true for nurse leader professionals who take on the responsibility to ensure safety and quality always remains at ideal measures for any facility.

Problem: During the past several years of the pandemic, the nurse leader role has had to endure several unknowns, placing significant …


Hapi Prevention On A Medical Surgical Telemetry Covid Unit, Maria G. Gonzalez Aug 2023

Hapi Prevention On A Medical Surgical Telemetry Covid Unit, Maria G. Gonzalez

Master's Projects and Capstones

Abstract

Problem: Hospital acquired pressure injures (HAPI) are potentially preventable but frequently occurring events in hospitalized patients. Pressure injuries can occur because of prolonged pressure and in combination with shear and friction forces. HAPI negatively impacts a patient’s quality of life. HAPI also increases the hospital’s financial burden and increases the patient’s length of stay.

Context: The 52-bed medical surgical, telemetry, COVID, unit is one of several unis within a hospital setting. The unit is challenged with the management of HAPIs. The staff are challenged with documenting and escalating the findings, and with finding a second nurse to assist with …


Genetic Control Of Mrna Splicing As A Potential Mechanism For Incomplete Penetrance Of Rare Coding Variants, Jonah Einson, Dafni Glinos, Eric Boerwinkle, Peter Castaldi, Dawood Darbar, Mariza De Andrade, Patrick Ellinor, Myriam Fornage, Stacey Gabriel, Soren Germer, Richard Gibbs, Craig P Hersh, Jill Johnsen, Robert Kaplan, Barbara A Konkle, Charles Kooperberg, Rami Nassir, Ruth J F Loos, Deborah A Meyers, Braxton D Mitchell, Bruce Psaty, Ramachandran S Vasan, Stephen S Rich, Michael Rienstra, Jerome I Rotter, Aabida Saferali, Moore Benjamin Shoemaker, Edwin Silverman, Albert Vernon Smith, Nhlbi Trans-Omics For Precision Medicine (Topmed) Consortium; Pejman Mohammadi, Pejman Mohammadi, Stephane E Castel, Ivan Iossifov, Tuuli Lappalainen Aug 2023

Genetic Control Of Mrna Splicing As A Potential Mechanism For Incomplete Penetrance Of Rare Coding Variants, Jonah Einson, Dafni Glinos, Eric Boerwinkle, Peter Castaldi, Dawood Darbar, Mariza De Andrade, Patrick Ellinor, Myriam Fornage, Stacey Gabriel, Soren Germer, Richard Gibbs, Craig P Hersh, Jill Johnsen, Robert Kaplan, Barbara A Konkle, Charles Kooperberg, Rami Nassir, Ruth J F Loos, Deborah A Meyers, Braxton D Mitchell, Bruce Psaty, Ramachandran S Vasan, Stephen S Rich, Michael Rienstra, Jerome I Rotter, Aabida Saferali, Moore Benjamin Shoemaker, Edwin Silverman, Albert Vernon Smith, Nhlbi Trans-Omics For Precision Medicine (Topmed) Consortium; Pejman Mohammadi, Pejman Mohammadi, Stephane E Castel, Ivan Iossifov, Tuuli Lappalainen

Faculty, Staff and Student Publications

Exonic variants present some of the strongest links between genotype and phenotype. However, these variants can have significant inter-individual pathogenicity differences, known as variable penetrance. In this study, we propose a model where genetically controlled mRNA splicing modulates the pathogenicity of exonic variants. By first cataloging exonic inclusion from RNA-sequencing data in GTEx V8, we find that pathogenic alleles are depleted on highly included exons. Using a large-scale phased whole genome sequencing data from the TOPMed consortium, we observe that this effect may be driven by common splice-regulatory genetic variants, and that natural selection acts on haplotype configurations that reduce …


Somatic Cell Structural Variant Mutagenesis And Neurologic Disease, James R Lupski Aug 2023

Somatic Cell Structural Variant Mutagenesis And Neurologic Disease, James R Lupski

Faculty, Staff and Students Publications

Detection of organismal mosaic states for variant alleles faces technical and analytical challenges, as does the association of such variant alleles with susceptibility to neurologic disease. In this issue of Cell Genomics, Maury et al.1 reanalyze genotyping arrays of a schizophrenia cohort providing evidence for the contribution of somatic structural variant mutagenesis and rare variant alleles.


A De Novo Missense Variant In Ezh1 Associated With Developmental Delay Exhibits Functional Deficits In Drosophila Melanogaster, Sharayu V Jangam, Lauren C Briere, Kristy L Jay, Jonathan C Andrews, Melissa A Walker, Lance H Rodan, Frances A High, Undiagnosed Diseases Network, Shinya Yamamoto, David A Sweetser, Michael F Wangler Aug 2023

A De Novo Missense Variant In Ezh1 Associated With Developmental Delay Exhibits Functional Deficits In Drosophila Melanogaster, Sharayu V Jangam, Lauren C Briere, Kristy L Jay, Jonathan C Andrews, Melissa A Walker, Lance H Rodan, Frances A High, Undiagnosed Diseases Network, Shinya Yamamoto, David A Sweetser, Michael F Wangler

Faculty, Staff and Students Publications

EZH1, a polycomb repressive complex-2 component, is involved in a myriad of cellular processes. EZH1 represses transcription of downstream target genes through histone 3 lysine27 (H3K27) trimethylation (H3K27me3). Genetic variants in histone modifiers have been associated with developmental disorders, while EZH1 has not yet been linked to any human disease. However, the paralog EZH2 is associated with Weaver syndrome. Here we report a previously undiagnosed individual with a novel neurodevelopmental phenotype identified to have a de novo missense variant in EZH1 through exome sequencing. The individual presented in infancy with neurodevelopmental delay and hypotonia and was later noted to have …


A Dimensional Approach To Discrepancy In Parenting Styles In Russian Families, Marina A Zhukova, Nan Li, Vitalii Zhukov, Elena L Grigorenko Aug 2023

A Dimensional Approach To Discrepancy In Parenting Styles In Russian Families, Marina A Zhukova, Nan Li, Vitalii Zhukov, Elena L Grigorenko

Faculty, Staff and Students Publications

We investigated the magnitude and direction of differences in parenting styles as they relate to children's mental health problems, as assessed using the CBCL. The sample consisted of 306 families residing in a large industrial city in Russia. We aimed to expand the cross-cultural literature on parenting styles by assessing a sample of Russian families and analyzing how agreement versus disagreement between self-reported and partner-reported parenting styles related to children's mental health problems. The findings suggested that both congruence and incongruence between parenting styles could be associated with children's mental health problems. When parents agreed about high warmth and matched …