Medicine and Health Sciences Commons^™

Monoallelic Variation In Dhx9, The Gene Encoding The Dexh-Box Helicase Dhx9, Underlies Neurodevelopment Disorders And Charcot-Marie-Tooth Disease, Daniel G Calame, Tianyu Guo, Chen Wang, Lillian Garrett, Angad Jolly, Moez Dawood, Alina Kurolap, Noa Zunz Henig, Jawid M Fatih, Isabella Herman, Haowei Du, Tadahiro Mitani, Lore Becker, Birgit Rathkolb, Raffaele Gerlini, Claudia Seisenberger, Susan Marschall, Jill V Hunter, Amanda Gerard, Alexis Heidlebaugh, Thomas Challman, Rebecca C Spillmann, Shalini N Jhangiani, Zeynep Coban-Akdemir, Seema Lalani, Lingxiao Liu, Anya Revah-Politi, Alejandro Iglesias, Edwin Guzman, Evan Baugh, Nathalie Boddaert, Sophie Rondeau, Clothide Ormieres, Giulia Barcia, Queenie K G Tan, Isabelle Thiffault, Tomi Pastinen, Kazim Sheikh, Suur Biliciler, Davide Mei, Federico Melani, Vandana Shashi, Yuval Yaron, Mary Steele, Emma Wakeling, Elsebet Østergaard, Lusine Nazaryan-Petersen, Undiagnosed Diseases Network, Francisca Millan, Teresa Santiago-Sim, Julien Thevenon, Ange-Line Bruel, Christel Thauvin-Robinet, Denny Popp, Konrad Platzer, Pawel Gawlinski, Wojciech Wiszniewski, Dana Marafi, Davut Pehlivan, Jennifer E Posey, Richard A Gibbs, Valerie Gailus-Durner, Renzo Guerrini, Helmut Fuchs, Martin Hrabě De Angelis, Sabine M Hölter, Hoi-Hung Cheung, Shen Gu, James R Lupski

Faculty, Staff and Student Publications

DExD/H-box RNA helicases (DDX/DHX) are encoded by a large paralogous gene family; in a subset of these human helicase genes, pathogenic variation causes neurodevelopmental disorder (NDD) traits and cancer. DHX9 encodes a BRCA1-interacting nuclear helicase regulating transcription, R-loops, and homologous recombination and exhibits the highest mutational constraint of all DDX/DHX paralogs but remains unassociated with disease traits in OMIM. Using exome sequencing and family-based rare-variant analyses, we identified 20 individuals with de novo, ultra-rare, heterozygous missense or loss-of-function (LoF) DHX9 variant alleles. Phenotypes ranged from NDDs to the distal symmetric polyneuropathy axonal Charcot-Marie-Tooth disease (CMT2). Quantitative Human Phenotype Ontology (HPO) …

Beyond The Exome: What’S Next In Diagnostic Testing For Mendelian Conditions, Monica H Wojcik, Chloe M Reuter, Shruti Marwaha, Medhat Mahmoud, Michael H Duyzend, Hayk Barseghyan, Bo Yuan, Philip M Boone, Emily E Groopman, Emmanuèle C Délot, Deepti Jain, Alba Sanchis-Juan, Genomics Research To Elucidate The Genetics Of Rare Diseases (Gregor) Consortium, Lea M Starita, Michael Talkowski, Stephen B Montgomery, Michael J Bamshad, Jessica X Chong, Matthew T Wheeler, Seth I Berger, Anne O'Donnell-Luria, Fritz J Sedlazeck, Danny E Miller

Faculty, Staff and Student Publications

Despite advances in clinical genetic testing, including the introduction of exome sequencing (ES), more than 50% of individuals with a suspected Mendelian condition lack a precise molecular diagnosis. Clinical evaluation is increasingly undertaken by specialists outside of clinical genetics, often occurring in a tiered fashion and typically ending after ES. The current diagnostic rate reflects multiple factors, including technical limitations, incomplete understanding of variant pathogenicity, missing genotype-phenotype associations, complex gene-environment interactions, and reporting differences between clinical labs. Maintaining a clear understanding of the rapidly evolving landscape of diagnostic tests beyond ES, and their limitations, presents a challenge for non-genetics professionals. …

Er-Mitochondria Contacts And Cholesterol Metabolism Are Disrupted By Disease-Associated Tau Protein, Leonora Szabo, Nadia Cummins, Paolo Paganetti, Alex Odermatt, Andreas Papassotiropoulos, Celeste Karch, Jürgen Götz, Anne Eckert, Amandine Grimm

2020-Current year OA Pubs

Abnormal tau protein impairs mitochondrial function, including transport, dynamics, and bioenergetics. Mitochondria interact with the endoplasmic reticulum (ER) via mitochondria-associated ER membranes (MAMs), which coordinate and modulate many cellular functions, including mitochondrial cholesterol metabolism. Here, we show that abnormal tau loosens the association between the ER and mitochondria in vivo and in vitro. Especially, ER-mitochondria interactions via vesicle-associated membrane protein-associated protein (VAPB)-protein tyrosine phosphatase-interacting protein 51 (PTPIP51) are decreased in the presence of abnormal tau. Disruption of MAMs in cells with abnormal tau alters the levels of mitochondrial cholesterol and pregnenolone, indicating that conversion of cholesterol into pregnenolone is impaired. …

Special Issue 2024: Transforming Experience In Non-Hospital Settings, Patient Experience Journal

Patient Experience Journal

Patient Experience Journal(PXJ) is excited to announce the call for submissions for its July/August 2024 special issue focused on exploring how healthcare organizations are transforming experience in non-hospital settings. So much of the experience conversation has been focused on and driven by the hospital setting – from acute care, to pediatrics, safety net hospitals and more. While this focus remains essential to some of the most critical care delivered in the healthcare ecosystem, it is important to recognize the volume of care being provided in new and existing settings. This special issue seeks to uncover and elevate the practices …

Leveraging The Intersectionality Of Healthcare And Hospitality To Diversify Workforce Talent And Enhance Patient Experience, Sven Gierlinger, Nicole Giammarinaro, Mallory Tuomey, Leah Petrosino

Patient Experience Journal

As healthcare becomes more of a consumerism-based industry, organizations and leaders are embracing innovative approaches and models to drive patient choice and brand loyalty. Northwell Health, New York State’s largest comprehensive health system, has integrated hospitality as a core pillar within its dynamic patient experience strategy. This informative case report highlights Northwell’s pragmatic approach to designing, implementing, and sustaining an experiential internship program entitled, Hospitality in Healthcare Internship. The program has resulted in action-oriented patient experience performance improvement opportunities as well as create a robust pipeline of hospitality-minded talent into the organization.

Experience Framework

This article is associated with the …

A Multi-Stakeholder Perspective On Quality Of Care Among Residents, Family Members And Nursing Staff In Nursing Homes: A Balanced Centricity Approach, Sil Aarts, Erica De Vries, Hilde Verbeek, Gaby Odekerken, Katya Y. J. Sion

Patient Experience Journal

The objective of this study was to use a Balanced Centricity (BC) approach to describe how personal values related to experienced quality of care are defined for residents, family and nursing staff in nursing homes. Capturing the values from a multi-stakeholder perspective, a qualitative approach was conducted in which the stakeholders’ (e.g., residents, family members of residents and nursing staff; a triad) experiences, opinions and values were explored. Participants were recruited from ten nursing homes within the Living Lab in Ageing & Long-Term Care Limburg, the Netherlands. The audio recording of every interview was transcribed verbatim. The analysis made use …

Perceptive Responses And Familiar Staff Facilitate Meaningful Engagement Of Older Adults And Family/Care Partners In Long-Term Care Home Implementation Science Research During Covid-19, Marie-Lee Yous, Denise M. Connelly, Ruthie Zhuang, Melissa E. Hay, Anna Garnett, Lillian Hung, Nancy Snobelen, Harrison Gao, Ken Criferg, Cherie Furlan-Craievich, Shannon Snelgrove, Melissa Babcock, Jacqueline Ripley

Patient Experience Journal

A novel registered practical nurse-led video conferencing approach using PIECES^TM for team-based care planning was developed to engage family/care partners in the care of older adults. The objectives were to: (a) explore the experiences of older adults and family/care partners in collaborating in implementation science research in long-term care (LTC); (b) identify facilitators and barriers to engaging older adults and family/care partners in implementation science research; and (c) share recommendations to support the engagement of older adults and family/care partners in research. A qualitative descriptive design was used. Two older adults and two family/care partners from two Canadian LTC …

Leveraging Telehealth Supportive Oncology Services To Combat Covid-19 Isolation In Breast Cancer Patients: A Cancer Center’S Perspective, Jake R. Erickson, Maranda K. Pahlkotter, Paul D. Thielking, Jane M. Porretta, Regina Rosenthal, Cindy B. Matsen, Kirstyn E. Brownson

Patient Experience Journal

During the COVID-19 pandemic, breast cancer patient in-person visits were converted to telehealth visits. Given our concerns about increased isolation amongst breast cancer patients during the pandemic, and the deleterious effects of such isolation on patient outcomes, we investigated utilization rates of psycho-social services amongst newly diagnosed breast cancer patients at our institution. We explored visit platforms (telehealth versus in-person) and time points prior to and encompassing the early pandemic. Despite decreased new breast cancer visits, there was a greater than 2-fold increase in supportive oncology service encounters in breast cancer patients during COVID-19 suggesting increased need for psycho-oncology resources. …

The Role Of Patient-Centered Communication Scale In Patients’ Satisfaction Of Healthcare Providers Before And During The Covid-19 Pandemic, Mohammad A. Tabatabai, Patricia Matthews-Juarez, Nader Bahri, Robert Cooper, Donald Alcendor, Aramandla Ramesh, Derek Wilus, Karan Singh, Paul Juarez

Patient Experience Journal

Assess the effect of patient-centered communication (PCC) scale on the patient satisfaction of healthcare providers (HCPs). The 2020 Health Information National Trends Survey (HINTS) was used to analyze the patient’s satisfaction of HCPs. This survey includes 2466 patients’ responses and were analyzed using the multivariable binary Hyperbolastic regression model of type II. The study examines the effects of PCC scale on patients’ satisfaction of HCPs while controlling for pandemic status, employment, education, marital status, race, political views, waiting time status, sex, income, and age. PCC scale was the most significant predictor of patients’ satisfaction of their HCPs (P-value < 0.001) followed by waiting time status (P-value < 0.001), and age (P-value = 0.016). The odds of patient satisfaction with the healthcare provider services were approximately 20% higher prior to the pandemic than during the pandemic (P-value = 0.415). The odds of satisfaction for patients earning $100k+ was approximately three times more than those making less than $35,000 (P-value = 0.003). PCC scale is a powerful measure that may be used as a metric for patients’ satisfaction of HCPs. Taking steps to improve communication between HCPs and patients is a key factor in patient satisfaction. Concentrating on the seven domains of PCC will result in higher patient satisfaction of HCPs. The improvement in PCC will encourage each patient to disclose vital information about his or her health. This may increase the accuracy of diagnosis, quality of care, and health outcomes.

Experience Framework …

How Covid-19 Changed Frontline Healthcare Workers’ Experiences: A Narrative Inquiry Into The Impact Of Chronic Burnout On A Surgical Physician Assistant’S Wellness, Lihua Dishman, Rhionna J. Smith

Patient Experience Journal

Burnout is an occupational phenomenon resulting from unmanaged chronic workplace stress. Since COVID-19 started, burnout among healthcare workers has worsened and become a public health crisis. Wellness is about leading a physically, mentally, and spiritually healthy lifestyle to achieve one’s full potential through positive affirmations. Its multiple dimensions include (1) physical, (2) emotional, (3) intellectual, (4) occupational, (5) social, and (6) spiritual. Extant empirical literature lacked regarding surgical physician assistants and how chronic burnout affected their wellness. This longitudinal narrative inquiry thus aimed to explore the perceived impact of a surgical physician assistant’s chronic burnout during the COVID-19 pandemic on …

Doctor Behaviors That Impact Patient Satisfaction, Bryan Lilly, Michael J. Tippins, Katharine Tippins, Julia Lilly

Patient Experience Journal

Patient satisfaction with their doctor is an essential component of healthcare that impacts both patient health outcomes and fiscal success of healthcare organizations. This study identifies doctor behaviors that act as drivers of patient satisfaction when doctor expertise is set aside and determines the importance of these behaviors between different age groups. Survey data were gathered from two samples, one comprising younger adults at a mid-size Midwestern university (n=100) and one comprising older adults from a national market research survey panel provider (n=187). Subjects were asked to rate their satisfaction with their doctors from 0‑100 and rate the importance of …

Identifying Sources Of Patient Dissatisfaction When Seeking Care For A Chronic And Complex Disease, Katharine J. Head, Anna K. Forster, Amanda Harsin, Rebecca J. Bartlett Ellis

Patient Experience Journal

Patients’ evaluations of healthcare often rely on patient satisfaction and encounter-specific approaches. Instead, valuable information can be gained by focusing on patient dissatisfaction with healthcare over time. This study examined patients’ sources of care dissatisfaction when seeking healthcare for a long-term chronic and complex disease (CCD). Participants with a CCD called polycystic kidney disease (N=387) completed an online questionnaire with an open-ended question about dissatisfying experiences. Content analysis was used to analyze responses. The coded data resulted in conceptual codes related to dissatisfaction with information, support, and care management. Analysis revealed the type of healthcare provider is often …

Psychometric Properties Of The Impact Index In Patients With Chronic Conditions, Kd Valentine, Suzanne Brodney, Carol Cosenza, J. Lee Hargraves, Karen Sepucha, Susan Edgman-Levitan, Michael Barry

Patient Experience Journal

The purpose of this paper was to extend the generalizability of the patient-reported Impact Index by assessing convergent validity in patients with common chronic conditions. We conducted a cross-sectional survey of 1,000 English-speaking patients aged 21 and older who visited their provider in the past 6 months and were included in one or more of a hospital’s chronic condition registries. Patients completed a survey that included the Impact Index (4-item measure of how impacted a patient is by their health condition: range 0-12, higher score indicating greater negative impact on quality of life), overall health, and self-report of diagnosis of …

How Are The Vibes? Patient And Family Experiences Of Rapport During Telehealth Calls In Palliative Care, Wendy English, Jackie Robinson, Merryn Gott

Patient Experience Journal

Interactions with rapport are considered essential to palliative care and beneficial to patient outcomes. With the current interest in telehealth, more knowledge is needed about rapport during telehealth encounters in palliative care from the patient and family viewpoint. The objective of this study was to explore patient and family experiences of rapport with health professionals during telehealth interactions in the community palliative care setting. This was a qualitative Interpretive Description study, with 18 patients and 11 family member participants recruited from four hospice locations in Aotearoa, New Zealand. Semi-structured interviews were conducted, and audio recorded between November 2020 and May …

The Initial Psychometric Evaluation Of A New Emergency Department Patient-Reported Experience Measure (Ed Prem), Claudia Bull, Julia Crilly, Sharon Latimer, Emma Hall, Brigid M. Gillespie

Patient Experience Journal

Patient-reported experience measures (PREMs) are critical to evaluating the person-centeredness, safety, and quality of healthcare services internationally. The aim of this study was to describe the initial psychometric evaluation of a new Emergency Department (ED) PREM. Adult patients presenting to the ED of a tertiary hospital in southeast Queensland, Australia during January 2022 were recruited in-person. Participants selected their preferred ED PREM mode of administration from online, telephone, or postal, and had 14 days from recruitment to complete the survey. Item reduction, structural validity, discriminant validity, and internal consistency reliability were assessed. A sample of 349 (68.4%) was achieved. Item …

“Feedback Is Indeed A Dainty Dish To Set Before The Trust”: Comparing How Online Patient Feedback Is Responded To And Used Across Three Hospital Trusts In England, Lauren P. Ramsey Dr, Laura Sheard Dr, Rebecca Lawton Professor, Jane O'Hara Dr

Patient Experience Journal

Patients are increasingly reporting about their healthcare experiences in an unsolicited manner online. This emerging resource may offer valuable opportunities for organisational learning. Our study aimed to compare how online patient feedback was responded to and used for improvement in three hospital Trusts. Ethnographic data were collected across three hospital Trusts in England, recruited according to the way they responded to online patient feedback. Findings from three case studies were brought together using a reflexive thematic analysis approach, via a multi-case analysis. Three key themes were highlighted. Firstly, the organisational rationale for engaging with patient feedback influenced levels of compassion …

‘Making It Meaningful’: Co-Designing An Intervention To Improve Medication Safety For People From Culturally And Linguistically Diverse Backgrounds Accessing Cancer Services., Ashfaq Chauhan, Bronwyn Newman, Elsa Roberto, Ramesh Lahiru Walpola, Holly Seale, Melvin Chin, Reema Harrison

Patient Experience Journal

This study reports on the process of using an adapted Experienced-Based Co-Design (EBCD) conducted with culturally and linguistically diverse (CALD) consumers and cancer service staff to co-design the novel ‘Making it Meaningful’(MiM) instrument at a cancer service in Australia. Multi-source experiential and contextual information was gathered in phase 1 of the co-design and this evidence, coupled with knowledge gathered via a feedback event was used to inform three co-design workshops in phase 2. A series of meetings were conducted prior to and in between the workshops. Theory was progressively integrated into the workshop content. Two Mandarin speaking CALD consumers and …

Patient-Centered Care Frameworks, Models And Approaches: An Environmental Scan, Aghna Wasim, Maria Sajan, Umair Majid

Patient Experience Journal

Although the definition of patient-centered care (PCC) remains unclear, researchers and healthcare professionals describe the concept as treating the patient as a unique human being with consideration for their physical and psychosocial needs and emphasize the importance of shared-decision making between patients and healthcare professionals. However, discussion around the connection and overlap between PCC and patient and family engagement (PE) has been limited. Some authors describe PE as an operationalization of PCC, while others consider PE a type of PCC. An enhanced understanding of PCC might allow for improvements in implementing PE across healthcare systems. Insight into the operationalization of …

The Journey From Provider To Patient: Lessons Learned, Jane E. Sullivan

Patient Experience Journal

The lens through which one experiences a health crisis is influenced by their personal beliefs and experiences as well as by their professional training and circumstances. Parotid (salivary) gland tumors are rare. Having more than one parotid tumor is rarer still. My experience as a clinician and researcher who was diagnosed with two parotid gland tumors was influenced by my life experiences and my professional background. This affected my reaction to the situation and the questions I asked. It also affected my expectations of my providers. This is a reflection on my six-plus-year journey and the lessons learned, both personally …

Leveraging Patient Experience Measures As Surrogate Outcomes To Evaluate Health Care Interventions, Layla Parast

Patient Experience Journal

Patient experience quality measure scores are widely accepted as outcomes in health services research. For some patients and in some settings, such as hospice care, they can be the most important outcomes. While these measures are widely used, the potential to use them as surrogate outcomes in a clinical trial sense has gone under-recognized. The purpose of this commentary is to discuss the use of patient experience measures as potential surrogate outcomes in evaluating the effect of a health care intervention.

Experience Framework

This article is associated with the Policy & Measurement lens of The Beryl Institute Experience Framework ( …

Whose Party Is It Anyway? An Invitation From A Patient Experience Advocate, Geoffrey A. Silvera

Patient Experience Journal

In this commentary, the associate editor of Patient Experience Journal (PXJ) discusses the need to center the human experience in health care by celebrating its essential human, the patient. We have a duty to honor and uphold the dignity of the importance of patient priorities, needs, and preferences, and those of their families. We honor, empower, and celebrate the patient experience at the Patient Experience Journal. We do this not only for the sake of patients, but for our sakes as well, so that we might all delight in patient-centered healthcare systems across the globe.

Experience Framework

This article is …

The Frontier For Human Experience Is Closer Than We Think, Jason A. Wolf

Patient Experience Journal

When we think of frontiers, we think of boundaries between the known and unknown, the edge we see in the distance, something that is always just over the horizon. Yet when we step into what was once the frontier, the horizon moves on us, with new distances to cross, edges to reach. It is this dynamic of frontiers, wrapped in our individual and shared experiences of the last few years that shape this very special issue. It is also why now more than ever frontiers are an important part of our transformation. Frontiers that push us beyond where we can …

2022 St. John’S University Biennial Poverty Conference Abstracts, Patrick Griffin, John M. Conry

Journal of Vincentian Social Action

No abstract provided.

Justice House At Niagara University: An Emerging Approach To Teaching Vincentian Social Justice During And After The Covid-19 Pandemic, Kevin A. Hinkley

Journal of Vincentian Social Action

Some commentators have predicted that the disruptive effects of the COVID-19 pandemic will transform the landscape of higher education in the United States. For example, Scott Galloway, Professor of Marketing at NYU Stern School of Business, predicts that most U.S. colleges and universities will either “go out of business or become a shadow of themselves.” Professor Galloway argues that the few elite universities that survive will enter into corporate partnerships with Big Tech companies such as Google, Apple, and Meta. From this perspective, for the overwhelming majority of U.S. colleges and universities there won’t be a “post-pandemic recovery”— at least …

Accepting Educational Responsibility For Social Justice: Homeless Mothers’ And Children’S Need Of Education About Health And Nutrition, Smita Guha

Journal of Vincentian Social Action

The goal is to improve health and nutrition among new mothers and their children who were living in shelters. The mothers received workshops and booklets consisting of information, quick and healthy recipes, and learned how to prepare home-made meals with a low budget. The mothers realized nutritious foods are important for them and their children. They learned how to manage time to make nutritious food at the residence. Children regardless of their background, are our future and we need to pay attention to their needs now so that future problems could be prevented. The significance of this study is immense …

Cancer Clinical Trials: The Role Of Healthcare Providers In Addressing Inequitable Racial/Ethnic Minority Representation In Biomedical Research, Jilian Maxine Jalipa Frianela, Gillian Leasunia Katoanga

Journal of Vincentian Social Action

No abstract provided.

Exploring Sexual Health Education Disparities Among Latina Immigrants In Jackson Heights, N.Y., Maria Camila Lopez, Hira Shafeeq

Journal of Vincentian Social Action

The purpose of the current study is to explore the factors that influence sexual health decisions of female Latina immigrants with low socioeconomic status in an urban area. We aimed to evaluate the possible preventive steps to lower their risk of contracting STDs. The need for this study was highlighted by research findings that suggest that health disparities among Hispanic immigrants have had a significant impact on their poor quality of life due to lack of proper access to medical care and misdiagnosis due to differences in risk factors and manifestations of the disease. Sexual health is a constant issue …

Mental Health Stigma As A Sociocultural Complex Within Panamanian Culture, Arielle Sanders

Journal of Vincentian Social Action

The purpose of this study is to examine mental health stigma within the sociocultural context shared by members of the Panamanian population. Mental health stigma is complex because it manifests itself differently according to the cultural context in which it is experienced. Culture informs individual beliefs, behaviors, and attitudes regarding how a person should live within their immediate household and within society. This social conditioning is accomplished through a variety of means, including the passing down of social norms, traditions, and customs. Ultimately, these cultural characteristics encourage socially acceptable behaviors while simultaneously discouraging undesirable behaviors in order to maintain group …

Demystifying Research For Undergraduate Students: An Avenue To Participate In Mission-Based Research, Hira Shafeeq

Journal of Vincentian Social Action

No abstract provided.

Editors

Journal of Vincentian Social Action

No abstract provided.