Medicine and Health Sciences Commons^™

Srcap Mutations Drive Clonal Hematopoiesis Through Epigenetic And Dna Repair Dysregulation, Chun-Wei Chen, Linda Zhang, Ravi Dutta, Abhishek Niroula, Peter G Miller, Christopher J Gibson, Alexander G Bick, Jaime M Reyes, Yi-Tang Lee, Ayala Tovy, Tianpeng Gu, Sarah Waldvogel, Yi-Hung Chen, Bryan J Venters, Pierre-Olivier Estève, Sriharsa Pradhan, Michael-Christopher Keogh, Pradeep Natarajan, Koichi Takahashi, Adam S Sperling, Margaret A Goodell

Faculty, Staff and Students Publications

Somatic mutations accumulate in all cells with age and can confer a selective advantage, leading to clonal expansion over time. In hematopoietic cells, mutations in a subset of genes regulating DNA repair or epigenetics frequently lead to clonal hematopoiesis (CH). Here, we describe the context and mechanisms that lead to enrichment of hematopoietic stem cells (HSCs) with mutations in SRCAP, which encodes a chromatin remodeler that also influences DNA repair. We show that SRCAP mutations confer a selective advantage in human cells and in mice upon treatment with the anthracycline-class chemotherapeutic doxorubicin and bone marrow transplantation. Furthermore, Srcap mutations lead …

Relation Between Fine And Gross Motor Skills And Observation Of Sociocultural Factors Across The First Year Of Infancy, Erika Garcia Mora

LSU Doctoral Dissertations

The development of independent arms-free sitting, which frees an infant’s arms to explore objects in their environment (Soska & Adolph, 2014) is observed to propagate an increase in the frequency of manual and manipulatory actions (Marcinowski, et al., 2019; Mlincek, et. al., 2022). Active object exploration provides the infant with more sensory information of the fundamental characteristics of objects in their environment. Thus, this dissertation examined the quality and quantity of object exploration across seated postures.

Additionally, the literature claiming that infants raised in low-income households having fewer resources for effective development is being countered by considering a more holistic …

Rare De Novo Gain-Of-Function Missense Variants In Dot1l Are Associated With Developmental Delay And Congenital Anomalies, Zelha Nil, Ashish R Deshwar, Yan Huang, Scott Barish, Xi Zhang, Sanaa Choufani, Polona Le Quesne Stabej, Ian Hayes, Patrick Yap, Chad Haldeman-Englert, Carolyn Wilson, Trine Prescott, Kristian Tveten, Arve Vøllo, Devon Haynes, Patricia G Wheeler, Jessica Zon, Cheryl Cytrynbaum, Rebekah Jobling, Moira Blyth, Siddharth Banka, Alexandra Afenjar, Cyril Mignot, Florence Robin-Renaldo, Boris Keren, Oguz Kanca, Xiao Mao, Daniel J Wegner, Kathleen Sisco, Marwan Shinawi, Undiagnosed Disease Network, Michael F Wangler, Rosanna Weksberg, Shinya Yamamoto, Gregory Costain, Hugo J Bellen

Faculty, Staff and Students Publications

Misregulation of histone lysine methylation is associated with several human cancers and with human developmental disorders. DOT1L is an evolutionarily conserved gene encoding a lysine methyltransferase (KMT) that methylates histone 3 lysine-79 (H3K79) and was not previously associated with a Mendelian disease in OMIM. We have identified nine unrelated individuals with seven different de novo heterozygous missense variants in DOT1L through the Undiagnosed Disease Network (UDN), the SickKids Complex Care genomics project, and GeneMatcher. All probands had some degree of global developmental delay/intellectual disability, and most had one or more major congenital anomalies. To assess the pathogenicity of the DOT1L …

Tuberculosis Screening In Migrants To The Eu/Eea And Uk, Niklas Köhler, Anca Vasiliu, Anna Maria Mandalakas, Leonardo Martinez, Christoph Lange

Faculty, Staff and Students Publications

No abstract provided.

Ex Vivo To In Vivo Model Of Malignant Peripheral Nerve Sheath Tumors For Precision Oncology, Alex T Larsson, Himanshi Bhatia, Xiaochun Zhang, Daniel Schefer, Kuangying Yang, Yang Lyu, Carina A Dehner, John S A Chrisinger, Kevin He, Angela C Hirbe, Et Al.

2020-Current year OA Pubs

BACKGROUND: Malignant peripheral nerve sheath tumors (MPNST) are aggressive soft tissue sarcomas that often develop in patients with neurofibromatosis type 1 (NF1). To address the critical need for novel therapeutics in MPNST, we aimed to establish an ex vivo 3D platform that accurately captured the genomic diversity of MPNST and could be utilized in a medium-throughput manner for drug screening studies to be validated in vivo using patient-derived xenografts (PDX).

METHODS: Genomic analysis was performed on all PDX-tumor pairs. Selected PDX were harvested for assembly into 3D microtissues. Based on prior work in our labs, we evaluated drugs (trabectedin, olaparib, …

Reverse Engineering And 3d Printing Of Medical Devices For Drug Delivery And Drug-Embedded Anatomic Implants, Anusha Elumalai, Yash Nayak, Aravinda K Ganapathy, David Chen, Karthik Tappa, Udayabhanu Jammalamadaka, Grace Bishop, David H Ballard

2020-Current year OA Pubs

In recent years, 3D printing (3DP) has advanced traditional medical treatments. This review explores the fusion of reverse engineering and 3D printing of medical implants, with a specific focus on drug delivery applications. The potential for 3D printing technology to create patient-specific implants and intricate anatomical models is discussed, along with its ability to address challenges in medical treatment. The article summarizes the current landscape, challenges, benefits, and emerging trends of using 3D-printed formulations for medical implantation and drug delivery purposes.

Infection And Inflammation Stimulate Expansion Of A Cd74+ Paneth Cell Subset To Regulate Disease Progression, Iyshwarya Balasubramanian, Shengxiang Sun, Ta-Chiang Liu, Et Al.

2020-Current year OA Pubs

Paneth cells (PCs), a specialized secretory cell type in the small intestine, are increasingly recognized as having an essential role in host responses to microbiome and environmental stresses. Whether and how commensal and pathogenic microbes modify PC composition to modulate inflammation remain unclear. Using newly developed PC-reporter mice under conventional and gnotobiotic conditions, we determined PC transcriptomic heterogeneity in response to commensal and invasive microbes at single cell level. Infection expands the pool of CD74

Description Of The Content And Quality Of Publicly Available Information On The Internet About Inhaled Volatile Anesthesia And Total Intravenous Anesthesia: Descriptive Study, Xinwen Hu, Bethany R Tellor Pennington, Michael S Avidan, Sachin Kheterpal, Nastassjia G Debourbon, Mary C Politi

2020-Current year OA Pubs

BACKGROUND: More than 300 million patients undergo surgical procedures requiring anesthesia worldwide annually. There are 2 standard-of-care general anesthesia administration options: inhaled volatile anesthesia (INVA) and total intravenous anesthesia (TIVA). There is limited evidence comparing these methods and their impact on patient experiences and outcomes. Patients often seek this information from sources such as the internet. However, the majority of websites on anesthesia-related topics are not comprehensive, updated, and fully accurate. The quality and availability of web-based patient information about INVA and TIVA have not been sufficiently examined.

OBJECTIVE: This study aimed to (1) assess information on the internet about …

The Prognostic Role Of Platelet-To-Lymphocyte Ratio In Acute Coronary Syndromes: A Systematic Review And Meta-Analysis, Michal Pruc, Frank William Peacock, Zubaid Rafique, Damian Swieczkowski, Krzysztof Kurek, Monika Tomaszewska, Burak Katipoglu, Maciej Koselak, Basar Cander, Lukasz Szarpak

Faculty, Staff and Students Publications

This study aimed to investigate the potential prognostic role of the platelet-to-lymphocyte (PLR) ratio in patients presenting with suspected acute coronary syndromes (ACS). A systematic search of PubMed Central, Scopus, EMBASE, and the Cochrane Library from conception through 20 August 2023 was conducted. We used odds ratios (OR) as the effect measure with 95% confidence intervals (CIs) for dichotomous data and mean differences (MD) with a 95% CI for continuous data. If I2 was less than 50% or the p value of the Q tests was less than 0.05, a random synthesis analysis was conducted. Otherwise, a fixed pooled meta-analysis …

Meaningful Engagement Of Patients And Families In A Complex Trial Of Advance Care Planning In Primary Care, Angela K. Combe, Deborah L. Dokken, Mary M. Minniti, Annette M. Totten

Patient Experience Journal

Engagement of Patient and Family Advisors (PFAs) is increasingly recommended as best practice in research. During the design and conduct of a large trial of advance care planning (ACP) in primary care, we expanded on the funder’s (Patient-Centered Outcomes Research Institute®) requirement for an engagement plan and sought to develop an innovative approach to fostering and sustaining meaningful engagement of PFAs throughout all phases of the trial. Structures were developed that integrated PFAs into planning and provided the foundation for their ongoing participation. A continuous quality improvement approach became the framework for ongoing engagement. This involved setting goals; collecting data …

Informative Material For Patient Empowerment In Sensitive Situations, Iris Reychav, Lin Zhu, Avi Parush, Roger Mchaney, Daphne R. Raban, Amy Lauren Shapira, Rami Moshonov

Patient Experience Journal

Women diagnosed with HPV face a hard-to-understand disease that may impact their psychological and physical health and may pose challenges communicating with healthcare providers in sensitive settings. We posit patient empowerment through targeted educational materials can improve sensitive communication and lead to better health outcomes. This study measured the impact of a patient-empowerment process used in a gynecology clinic for HPV patients to improve sensitive communication during medical-related meetings and on subsequent patient empowerment outcomes. The empowerment process was based on expert-vetted informative material made accessible in the physician’s waiting room on tablet devices. Communication between physicians and patients was …

Informed Consent In Surgical Practice With Patients’ Experiences: A Cross-Sectional Study, Seda Kumru, Pakize Yiğit, Meryem Demirtaş, Hüseyin Fındık

Patient Experience Journal

This study aims to evaluate patients' experiences and perspectives regarding informed consent in surgical practice. Data for this cross-sectional study were collected from 276 patients using a questionnaire developed by Falagas et al. Descriptive statistics were employed for all questions. Statistical tests such as the Mann-Whitney U test, Kruskal-Wallis test, and Spearman's rank correlation analysis were performed, and Cohen's effect sizes were reported. IBM SPSS 23.0 was used for all analyses, and p<0.05 was considered statistically significant. A high score on both The Delivered Information Index and The Patient-Physician Index represents a positive informed consent process. Among the participants, 65.2% indicated that they understood all parts of the consent form. Of all patients, 92.8% reported that information about the specific surgical procedure was provided by physicians. However, 47.5% of the patients reported that they did not feel comfortable with their surgeons. The mean score of the Delivered Information Index was 5.63 (2.38). The mean patient-physician relationship score was 14.38 (3.31). There was a moderate positive correlation between the delivered information index and the patient-physician relationship (r=0.50; p<0.001). In addition, there was a moderate positive correlation between the delivered information index and the time spent on the informed consent process, as well as between the patient-physician relationship and the time spent on the informed consent process (r=0.52; r=0.40, respectively). The study emphasized the lack of communication between patients and physicians, the limitation of information on treatment risks, adverse effects, and alternative treatment options.

Experience Framework

This article is associated with the Policy & Measurement lens of The Beryl Institute Experience Framework (https://theberylinstitute.org/experience-framework/).

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Patient Perspectives Of Health-Related Social Needs Screening In An Urban Academic Adult Primary Care Practice, Antony Nguyen, Joselvin Galeas, Jane Jih

Patient Experience Journal

Health-related social needs (HRSNs) affect health outcomes and healthcare utilization. Patients’ perspectives on the incorporation of HRSN screening in primary care settings is limited. We sought to explore adult primary care patient perspectives of HRSN screening from optional patient-provided free-text comments as part of a pilot self-administered HRSN screening survey on seven domains of HRSNs from the Accountable Health Communities HRSNs Screening Tool. The survey was available in English, Chinese or Spanish with a section titled “Comments” that invited patient respondents to provide anonymous free-text responses. We performed a thematic analysis of the written patient comments. Of the 679 participants …

The Silence Of Mitotic Figures, Hope K. Haefner Md

Patient Experience Journal

A career in medicine is guided by the patients you treat and those who have taught you to treat these individuals. Communication is of utmost importance in all aspects of healthcare. However, there are times when communication can be difficult. This story takes you through a physician’s experience that led to a career in women’s healthcare, reflecting on the silence that prevailed as her journey began.

Experience Framework

This article is associated with the Staff & Provider Engagement lens of The Beryl Institute Experience Framework (https://theberylinstitute.org/experience-framework/).

• Access other PXJ articles related to this lens.
• Access other resources related …

Medicine And Kindness, A Glorious Concurrence?, Araya Gautam

Patient Experience Journal

This article unfolds the journey of a 28-year-old junior doctor entangled in the throes of a pernicious anemia diagnosis during her travels abroad, a scenario exacerbated by the grip of a COVID-19 lockdown. Adrift without medical insurance and distant from her family, she found herself under the care of a compassionate on-call resident, emphasizing the crucial role of kindness and compassion in her predicament. Her treatment regimen encompassed a series of CBC tests meticulously tracking cobalamin and ferritin levels, complemented by extensive examinations for iron deficiency and a regimen of vital vitamin B12 injections, all carried out under vigilant scrutiny …

Transforming The American Experience Of Death: What Dreams May Come?, Melinda Xu, Geoffrey A. Silvera Phd, Mha, Lyle Walton, Jane Banaszak-Holl

Patient Experience Journal

There is no means to evaluate the death experience in the US healthcare system. Other countries have established population-wide measures to evaluate and improve the dying experience for patients and their families. With an increasing population of advanced-age persons, changes in sites of death, and a continually fractured healthcare delivery system, there is a need to establish a universal assessment of the quality of death in the US. In this commentary, we outline the need for such an assessment and build off of previous literature on the various existing assessments of the quality of death that have typically been reserved …

The Case For Patient-Reported Pleasure, Preston Long, Tanja Stamm

Patient Experience Journal

Pleasure is a cornerstone of human behavior. Its lack of consideration in the medical sciences has been to the detriment of all patients. The process of including pleasure as a medical outcome has multiple beginnings. A health-related pleasure scale must be developed for clinical purposes and original research must be conducted to establish the added value of measuring pleasure. Treatment comparisons, prediction models for recovery, side-effect investigations, and more may benefit from the collection of patient-reported pleasure. Furthermore, simply inquiring about a patient’s pleasure may serve as a positive intervention by giving them permission to discuss more than the illness …

Breaking The Transactional Mindset: A New Path For Healthcare Leadership Built On A Commitment To Human Experience, Kirsten Krull, Jerry Mansfield, Jennifer Gentry, Karen Grimley, Barbara Jacobs, Jason Wolf

Patient Experience Journal

Numerous health care publications have focused on the compelling need to improve patient experience and the associated improvements necessary to address workforce well-being. The COVID-19 pandemic exacerbated and illuminated long-standing problems in health care including workforce shortages, inequity in health care delivery outcomes, care provider burnout, and overall societal structural racism.^1,2 The Beryl Institute’s Nursing Executive Council (NEC) manuscript Rebuilding a Foundation of Trust: A Call to Action in Creating a Safe Environment for Everyone³ focused on actions and behaviours to heal relationships and build trust between care providers and leaders with commitments to safety, empathy, shared decision …

Four Commitments For The Future Of Healthcare: Reflecting On A Decade Of Patient Experience Journal, Jason A. Wolf

Patient Experience Journal

This issue closes the first decade of Patient Experience Journal’s (PXJ) contribution to evidence and innovation, to sharing stories and research, to elevating the conversation and pushing the boundaries of the experience movement. We have never hesitated to nudge at the status quo or to respond with agility to the challenging moments we have faced. We have welcomed diverse voices as contributors, and we have seen an even more diverse readership. In reviewing the pages of PXJ over the last decade, we see a true evolution of the experience movement itself. The words of our contributors have provided a lens …

Graduate Medical Education – A Look Back, Vicki Hamm

Graduate Medical Education Research Journal

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Social Determinants May Limit The Success Of Pcsk9 Inhibitors, An Effective Treatment For Hyperlipidemia In Statin-Intolerant Patients, Abigail C. Kuplicki

Clinical Research in Practice: The Journal of Team Hippocrates

A clinical decision report using:

Moriarty PM, Thompson PD, Cannon CP, et al. Efficacy and safety of alirocumab vs ezetimibe in statin-intolerant patients, with a statin rechallenge arm: The ODYSSEY ALTERNATIVE randomized trial. J. Clin. Lipidol. 2015;9(6):758-769. https://doi.org/10.1016/j.jacl.2015.08.006

for a statin-intolerant patient with hyperlipidemia.

Renal Disease Rehabilitation And Delaying Dialysis, Spencer Brown, Natalie Sterner

Clinical Research in Practice: The Journal of Team Hippocrates

A clinical decision report using:

Greenwood SA, Koufaki P, Mercer TH, et al. Effect of exercise training on estimated GFR, vascular health, and cardiorespiratory fitness in patients with CKD: a pilot randomized controlled trial. Am J Kidney Dis. 2015;65(3):425-434. https://doi.org/10.1053/j.ajkd.2014.07.015

for a patient with non-dialysis CKD interested in slowing the progression toward necessary dialysis.

Slow Surgical Correction Affects More Than Just The Bowels, Emilia M. Clementi

Clinical Research in Practice: The Journal of Team Hippocrates

Reflection on how delayed colostomy reversal affects a patient's mental and physical well-being.

Exploring The Relationship And Impact Of Islamic Religious Coping On The Meaning Made, Following The Loss Of A Loved One, Yara Ihab Am Ali

Thesis/ Dissertation Defenses

Coping after a loss of a loved one can play out differently for different individuals. The existing literature examines coping with loss and bereavement, but it is often with specific types of loss, and usually with western populations or religions. This paper examines the impact of Islamic religious coping onto the meaning made following the loss of a loved one to death, in a diverse ethnic background sample population of various Muslims who have experienced loss in the past 5 years. The study focuses specifically on positive religious coping, and whether it would have a positive and strong relationship with …

Chaotically-Disengaged Family Functioning And Depressive Symptoms In Muslim University Students: The Mediating Effect Of Psychological Flexibility And Self-Compassion, Sabina Ioana Varga

Thesis/ Dissertation Defenses

Depression is one of the most prevalent mental health issues among university students. Growing evidence suggests an association between impaired family functioning and increased depressive symptoms. However, there is a gap in the literature with regards to the factors that mediate this relationship. Psychological flexibility and self-compassion are two factors that have been previously linked to both family functioning and depressive symptoms. The present study aims to investigate the mediation role of psychological flexibility and self-compassion on the association between chaotically-disengaged family functioning and depressive symptoms in Muslim university students. Whilst previous studies have been conducted in this topic area …

Interprofessional Health Fairs: An Effective Tool For Interprofessional Education?, Caleb Holloway, Ashley Barbo, Bryan Donald, Min Jee Kim

Journal of Interprofessional Practice and Collaboration

Purpose: The purpose of this study was to determine whether interprofessional health fairs have a significant impact on the interprofessional education of students in health care disciplines.

Methods: An optional survey was administered to students participating in the health fairs in 2021 and 2022. The survey utilized four retrospective pre and post ICCAS assessment questions to address IPEC core competencies and two open ended questions to provide feedback about the health fair and report anything new learned from or about another health care discipline. The self-assessment questions were reported on a 5-point Likert scale and recorded in aggregate for both …

Improving Effective Care In Obese Patients In A Primary Care Clinic, Amy Miller

Journal of Interprofessional Practice and Collaboration

Background: Obesity is a preventable epidemic and costs the United States $200 billion annually. The leading causes of death are linked to obesity.

Local Problem: In a chart review, 53% of patients at a northeast Louisiana primary care clinic were obese. However, none were offered comprehensive lifestyle intervention. The aim was to increase the percentage of patients with BMI < 30 kg/m2 to 60% over 8 weeks.

Methods: A rapid-cycle quality improvement initiative was implemented using four Plan-Do-Study-Act cycles over 8 weeks. Each cycle produced tests of change related to screening, patient and team engagement, and assessing effective care. Run charts and aggregate tables were used to analyze …

An Slp Graduate Student’S Analysis Of Language In Children With Speech Sound Disorders, Madeline Janney, Donna Thomas

Journal of Interprofessional Practice and Collaboration

Purpose

Students in allied health professional (AHP) programs are instructed in evidenced-based evaluation practices and participate in interprofessional education and practice in order to identify disorders (e.g., speech, language, gross motor, fine motor) and provide effective treatment. The purpose of this paper is to present a small-scale research study of one graduate student in an AHP program that trains speech-language pathologists.

Method

A graduate student used retrospective methodology to examine the language skills of nine children with speech sound disorders (SSD) to determine if language impairment (LI) co-existed. The student learned and used a method of language sample analysis known …

Seven Years Of Csd Book Club: Nurturing Skills And Enhancing Worldviews, Lillian N. Stiegler, Rebecca Davis, Donna Thomas, Rebecca L. Parker, Martha Sherrill

Journal of Interprofessional Practice and Collaboration

Abstract

Purpose: CSD faculty at a mid-sized public university invited students and alumni to join a monthly book club focused on topics relevant to professional practice. The goals were (1) to create a pleasurable activity that would serve as a social and intellectual forum for open dialogue; (2) to attempt to address gaps in the less tangible “soft” skills that may not be directly or thoroughly taught in courses; and (3) to help participants see beyond personal interest silos and explore new topics.

Method: The work reviews and summarizes book club research from health care, education and CSD. It describes …

Remote Clinical Skills Simulation For Nursing Students During Covid-19, Cari Granier, Lauren Boudreaux

Journal of Interprofessional Practice and Collaboration

Introduction: Due to the COVID-19 pandemic, nursing educators have had to adapt and develop new teaching methods that abide by social distancing protocols. This left educators wondering how to accommodate all students with limited physical space and faculty while preserving the quality of instruction and allowing adequate time for practice (Bezerra, 2020). Methods: Bachelor of Science in Nursing (BSN) students enrolled in a sophomore level adult health course were instructed to gather supplies and create an at-home manikin box to practice clinical skills such as endotracheal suctioning, tracheostomy care, nasogastric tube insertion, nasogastric tube irrigation, nasogastric feeding administration, …