Digital Commons Network^™

Implementation Of The Pressure Injury Prevention Care Bundle At A Home Based Hospice Program: A Quality Improvement Project, Adaeze U. Amechi-Fannin

Doctor of Nursing Practice Final Project Abstract

Purpose: This Doctor of Nursing Practice project was created to improve the prevention of pressure injuries in hospice patients receiving care through a Home-based Hospice and Palliative program. The project focused on introducing a standard set of care steps (a care bundle), enhancing caregiver education, and tailoring interventions to meet each patient’s unique needs, with the goal of improving overall patient outcomes.

Background: Pressure injuries remain a common and serious problem in hospice care, especially among patients who are immobile or confined to bed. Although effective prevention methods are known, inconsistent use of these methods, limited caregiver training, and poor …

Reducing Live Discharges Using A Tiered Protocol In A Rural Hospice: A Quality Improvement Project, Jemma Lowak

Doctor of Nursing Practice Final Project Abstract

Purpose: To reduce 30-day caregiver-driven hospice revocations by implementing a tiered post-admission nursing visit protocol based on caregiver preparedness. Background: Caregiver distress and inadequate support contribute to hospice revocations and interruptions in care. Increased nursing contact during the first week of enrollment may improve caregiver preparedness and reduce crisis-driven hospitalizations. Methodology: An eight-week quality improvement project using the Plan-Do-Study-Act framework was implemented at a rural hospice agency. Caregivers completed a Caregiver Preparedness Survey to assign preparedness tiers and guide additional nursing visits during the first week. Process measures included survey completion and protocol adherence. Outcome measures included caregiver preparedness and …

Quality Domains In Home-Based Pediatric Hospice And Palliative Care: Adolescent And Young Adult Perspectives, Daniel H Grossoehme, Claire A Crawford, Jhansi Chandra Ellakula, Toluwalase Ajayi, Justin N Baker, Sarah Friebert, Lisa Humphrey, Jillann Jarrell, Rachel Thienprayoon, Pamela S Hinds

Faculty, Staff and Students Publications

Background: Current United States palliative care practice guidelines are intended to cover care across all age groups. Previous research with pediatric providers and caregivers concluded that pediatric hospice and palliative care have unique attributes. Not known is how adolescent hospice and palliative care patients understand quality palliative care. The purpose of this study was to characterize and define quality of care domains as described by adolescent and young adult patients receiving home-based hospice and palliative care.

Methods: Semi-structured interviews with 10-26 year-olds who received home-based hospice and/or palliative care visits in the prior three years at six diverse sites in …

Latest In Resuscitation Research: Highlights From The 2025 American Heart Association's Resuscitation Science Symposium, Caleb T Suh, Clark G Owyang, Lindsay Shepard, Betty Yang, Ryan W Morgan, Daniel M Rolston, Catherine R Counts, Tommaso Scquizzato, James Horowitz, Tatyana Shvilkina, Katherine Berg, Sam Parnia, Sanam Alilou, Catherine Swarts, Ryan A Coute, Lama A Ammar, William C Herring, Thomas Lederer, Joaquin Araos, Benjamin S Abella, Cameron Dezfulian, Sarah M Perman, Felipe Teran

Faculty, Staff and Students Publications

No abstract provided.

Pediatric Home-Based Hospice And Palliative Care: A Scoping Review, Ellen Davis, Daniel H Grossoehme, Toluwalase Ajayi, Justin N Baker, Pamela S Hinds, Lisa Humphrey, Jill Ann Jarrell, Rachel Thienprayoon, Sarah Friebert

Faculty, Staff and Students Publications

Pediatric palliative and/or hospice care is provided across a broad spectrum of settings, ranging from inpatient to outpatient to a child's home. Pediatric home-based hospice and/or palliative care teams offer a specialized, interdisciplinary approach to care, allowing children to stay in the home while offering comprehensive support. This scoping review seeks to summarize what is known about pediatric home-based hospice and/or palliative care and to identify gaps in the current research. Following Arskey and O'Malley's scoping review framework, we searched four databases for studies focused on pediatric home-based hospice and/or palliative care programs. Studies were included if they were published …

International Consensus On The Evaluation And Management Of Hypothalamic Hamartomas: Results From A Modified Delphi Survey, Nathan T Cohen, Xiaotong Li, Madison M Berl, Chima O Oluigbo, Hiroshi Shirozu, Samuel F Berkovic, Margaret Zacharin, Wirginia Maixner, Andreas Schulze-Bonhage, Kerstin Klotz, Nicola Specchio, Sarah Ferrand-Sorbets, Christine Bulteau, Alexis A Arzimanoglou, Jean Regis, J Helen Cross, Martin M Tisdall, Hanna Richardson, Arthur Cukiert, Cristine Cukiert, Julia Jacobs, Elizabeth J Donner, Phillip L Pearl, John F Kerrigan, Angus A Wilfong, Kevin C J Yuen, Dennis J Dlugos, Daniel Curry, Irfan Ali, John Ragheb, Lisa Soeby, Erica Webster, William D Gaillard

Faculty, Staff and Students Publications

Background and objectives: Hypothalamic hamartomas (HH) are rare brain lesions associated with epilepsy and numerous comorbidities. Worldwide treatment is varied. There is a paucity of high-quality evidence to guide treatment. This study aimed to establish expert consensus on the evaluation and management of HH.

Methods: A modified Delphi survey was designed by the Medical Advisory Board of Hope for Hypothalamic Hamartomas and was conducted among 17 International League Against Epilepsy level II epilepsy surgery centers. The survey included 257 questions in round 1 and 81 refined questions in round 2, covering domains of diagnosis, imaging, medical and surgical treatment, neuropsychological …

Nerandomilast In Progressive Pulmonary Fibrosis: Data From The Whole Follow-Up Period Of The Fibroneer-Ild Trial, Marlies S Wijsenbeek, Shervin Assassi, Arata Azuma, Vincent Cottin, Anna-Maria Hoffmann-Vold, Toby M Maher, Fernando J Martinez, Justin M Oldham, Luca Richeldi, Claudia Valenzuela, Hui Gu, Ivana Ritter, Susanne Stowasser, Michael Kreuter

Faculty, Staff and Student Publications

Background: In the FIBRONEER-ILD trial in patients with progressive pulmonary fibrosis (PPF), nerandomilast 9 mg bid and 18 mg bid reduced the decline in forced vital capacity at week 52 compared with placebo (the primary endpoint). We assessed the effects of nerandomilast up to the final database lock.

Methods: Time to first acute exacerbation of ILD, hospitalisation for respiratory cause, or death (key secondary endpoint) and other time-to-event endpoints were assessed.

Results: 1176 patients, of whom 512 were taking background nintedanib, received nerandomilast or placebo. At final database lock, mean (sd) exposure to trial medication was 15.1 (5.7) months and …

The Development Of A Framework To Classify Medication Deprescribing Among Patients With Type 2 Diabetes In Primary Care Practices, Puja B Gandhi, Yoav Jacob, Joeita F Macfield, Gia Merlo, Stefanie M Meyer, Shivani S Patel, Caroline Rhéaume, Kara L Staffier, Madeline Watson, Micaela C Karlsen

Faculty, Staff and Student Publications

No abstract provided.

Single Ventricle Physiology May Not Preclude Cardiac Repair In The Setting Of Congenital Diaphragmatic Hernia, Kylie I Holden, Michael C Scott, Ashley H Ebanks, Amir M Khan, D Michael Mcmullan, Anthony Johnson, Charles S Cox, Matthew T Harting, Damien J Lapar

The Brown Foundation: Institute of Molecular Medicine

Objective: Management for congenital heart disease (CHD) with congenital diaphragmatic hernia (CDH), particularly in single ventricle physiology, is challenging, with limited studies showing poor outcomes. This investigation evaluated outcomes for these complex patients.

Methods: This retrospective cohort study (2007-2022) from the CDH Study Group analyzed mortality in patients with CDH and single ventricle physiology, using standard statistical methods and Cox regression for estimation.

Results: A total of 9,261 CDH patients were identified, including 1,886 with CDH + CHD and 131 with single ventricle physiology. The median gestational age was 38 weeks and birthweight was 2.8 kg. Of 131 patients, 34 …

Predicting Mortality And Costs After Emergency Department Visits By People With Dementia: Timing And Location Matter, Jason K Bowman, Christine S Ritchie, Kei Ouchi, Kyler M Godwin, James A Tulsky, Joan M Teno

Faculty, Staff and Students Publications

Background: People with dementia have high rates of emergency department (ED) and hospital utilization, high mortality and costs, and other poor outcomes. To successfully impact the care trajectories of these patients, health care systems must pragmatically identify the correct target population. This study described patterns of ED utilization by people with dementia and explored the accuracy of administrative data models to predict mortality and costs.

Methods: Retrospective cohort study of a 20% random sample of Traditional Medicare (TM) beneficiaries with dementia, age ≥ 66 years, and an index ED visit in 2018. One-year mortality and high costs were described, and …

Hyperpolypharmacy And Readmission Risk Among Medicare Beneficiaries: The Role Of Postdischarge Care, Maria Ukhanova, Linda D Highfield, Trudy M Krause, Gayla M Ferguson, Robert O Morgan

Faculty, Staff and Student Publications

Objectives: Medication reconciliation post discharge may reduce readmission risk in populations with multimorbidity and polypharmacy. We aimed to evaluate the association between hyperpolypharmacy and 30-day readmissions; determine the impact of postdischarge care on 30-day readmissions; and identify interactions among hyperpolypharmacy, postdischarge care, and 30-day readmissions in 2 Medicare populations: individuals 65 years and older and individuals of any age with a qualifying disability.

Study design: Retrospective observational study using the 5% national sample Medicare fee-for-service claims data from 2016 to 2019.

Methods: We used descriptive statistics and generalized estimating equation models adjusted for covariates to assess the relationships among hyperpolypharmacy, …

Pain Prevalence And Pain Management At The End Of Life: Regional And Urban-Rural Differences From A National-Representative Survey Of Chinese Older Adults, Yaolin Pei, Xiang Qi, Zexi Zhou, Yifan Lou, Jing Wang, Yang Li, Bei Wu

Faculty, Staff and Student Publications

Background: Effective pain management is essential for improving quality of life at the end of life. However, challenges persist globally, particularly in China, where palliative care remains underdeveloped. This study investigates pain prevalence and the associations between pain severity, place of death, and the quality of pain management among older adults in China, with a focus on regional and urban-rural disparities.

Methods: We used data from the 2014, 2016, 2018, and 2020 waves of the China Longitudinal Aging Social Survey. The final sample included 1,525 older adults who died during the study period. We conducted OLS regression analyses to examine …

Medical Aid In Dying: A Narrative Review Of The Recent Academic Literature In The United States., Holland Kaplan, Soraira Pacheco, Keziah M Thomas, Christopher L Ulmschneider, Anjiya Sulaiman, Chandni Lotwala, Derek Dawes, Issa A Hanna, Courtney Nguyen, Caroline G Snider, Gabriel M Aisenberg

Faculty, Staff and Student Publications

Medical aid in dying (MAiD) is a practice in which a healthcare professional provides assistance to a terminally ill patient seeking to end their life. To assess how academic discourse may shape public opinion and policy in the United States, we conducted a narrative review of the literature published between 2020 and 2024. Articles were categorized as supportive, opposing, or neutral, and patterns were examined across authorship, disciplinary focus, and target populations. Our findings reveal that most recent publications adopt supportive or neutral stances toward MAiD, with a slight increase in opposition beginning in 2022. Authorship discipline strongly influenced position, …

Validation Of The French Translation Of The Movement Disorder Society Non-Motor Symptoms Scale (Mds-Nms) In Parkinson's Disease, Clément Desjardins, Stéphan Grimaldi, Sheng Luo, Luowen Yu, Christopher G Goetz, Glenn T Stebbins, Pablo Martinez-Martin, Monica M Kurtis, Tiago A Mestre, Alvaro Sanchez-Ferro, Michelle H S Tosin, Roberta Balestrino, Chi-Ying R Lin, Carmen Gasca-Salas, Tatiana Witjas, Olivier Colin, David Maltete, Luc Defebvre, Caroline Giordana, Mahmoud Charif, Claire Thiriez, Chloé Laurencin, Mélissa Tir, Gwendoline Dupont, Philippe Remy, Christine Tranchant, Sophie Drapier, Alexandra Samier, Isabelle Benatru, Sara Sambin, Jean-Christophe Corvol, Fatma Khelifi, Margherita Fabbri, Olivier Rascol, Ns‐Part Cohort Study Group And The Mds Coa Translation Steering Committee

Faculty, Staff and Students Publications

No abstract provided.

Self-Efficacy Change Among Diverse Family Caregivers In Dementia Care, Deborah M Oyeyemi, Erich J Greene, Yunshan Xu, David R Lee, Rafael Samper-Ternent, Maya L Lichtenstein, Alan Stevens, Jeff D Williamson, Arun S Karlamangla, Debra Saliba, David B Reuben

Faculty, Staff and Student Publications

Objectives: To determine whether changes in caregiver self-efficacy (beliefs about one's ability to manage dementia-related problems and access help) differed by caregiver race and ethnicity across all participants enrolled in a large pragmatic trial of comprehensive dementia care.

Methods: In the Dementia Care Study (D-CARE), community-dwelling older adults with dementia and their unpaid family caregivers were randomized to receive usual care, community-based, or health system-based comprehensive dementia care. Caregiver self-efficacy was assessed at baseline, 6 months, and 18 months using a 4-item scale (range 4-20, higher scores indicate greater self-efficacy). Among all caregivers, we compared least squares means for overall …

“Do Everything” Versus Realistic Surgical Interventions: Navigating The Road To Shared Decision-Making In Trauma Surgery, Victoria E Wagner, Ashna S Karpe, Martin L Blakely, Lillian S Kao, Thaddeus J Puzio

Faculty, Staff and Student Publications

"DO EVERYTHING!!" How many times have you heard that phrase from a distressed family member? We routinely receive this desperate plea, and our knee-jerk reaction is to press on, push harder, be more aggressive. We, as acute care surgeons, have spent our lives learning a craft geared towards "doing everything" to heal patients so this response comes naturally. However, how do we respond to "do everything" when the probability of a meaningful recovery is extremely low or non-existent? These situations create moral tension for surgeons who must reconcile the desire to preserve life with the obligation to avoid harm, respect …

Implementing An Evidence-Based Wound Care Protocol For Inpatient End-Of-Life Residents That Aligns With Hospice Comfort Care Goals, Oge C. Okeke, Oge C. Okeke

Doctor of Nursing Practice Final Project Abstract

Abstract uploaded

Physical Activity, Telomere Length, And Cardiometabolic Syndrome In Older Women: The Cardiovascular Health Study, Jeni Page, Melissa Richard, Elizabeth Lyons, Elizabeth Baumler, M Terese Verklan, Michelle C Odden, Elizabeth Lorenzo

Faculty, Staff and Student Publications

Background: Cardiometabolic syndrome (CMS) affects approximately 39% of US women and increases risk for cardiovascular disease, diabetes, and stroke. Telomere length, a biomarker of cellular aging, is associated with CMS and may be influenced by physical activity (PA), potentially mitigating telomere shortening. Black women have higher CMS prevalence compared to white women and may exhibit distinct telomere length dynamics influenced by interactions between CMS and PA.

Methods: Data were drawn from the Cardiovascular Health Study and included black and white women who provided data on PA, CMS risk factors, and telomere length (N = 417). Linear regression models examined the …

Chemoradiation After Chemotherapy For Metastatic Cervical Cancer Can Provide Chemo-Free Time, Spoorthi Kamepalli, Ashley Chavana, Michelle Ludwig, Madeline Flanagan, Shelly Sharma, Tracilyn Hall, Anthony Costales, Jan Sunde, Claire Hoppenot

Faculty, Staff and Students Publications

Introduction: Stage IVB cervical cancer is treated with a life-prolonging and palliative intent with systemic chemotherapy and immunotherapy. The purpose of this study was to evaluate the number of these patients who had an adequate response to chemotherapy to be eligible for consolidative radiosensitizing chemotherapy and radiation (chemoradiation) and subsequent outcomes.

Materials and methods: This is a retrospective review of metastatic cervical cancer patients treated with chemotherapy and evaluated for treatment with consolidative pelvic chemoradiation at a single safety-net hospital system from 2016 to 2024. Demographic data and clinical information were collected from electronic medical records. Stata was used for …

Implementing An Evidence-Based Wound Care Protocol For Inpatient End-Of-Life Residents That Aligns With Hospice Comfort Care Goals, Oge C. Okeke

Doctor of Nursing Practice Final Project Abstract

Implementing an evidence-based wound care protocol for inpatient end-of-life residents that aligns with hospice comfort care goals.

Purpose

This quality improvement (QI) project aimed to adopt a patient-centered, comfort-focused approach to wound care at the DNP project site and improve patient outcomes by increasing nursing staff's knowledge of evidence-based wound treatment strategies by 20%.

Background

Curative treatments involving aggressive methods do not align with hospice principles. Residents at the project site experience increased suffering at the end of life because of limited nursing knowledge of evidence-based, atraumatic wound care practices for end-of-life patients.

Results

Pre-intervention nursing knowledge survey scores ranged …

Reply To: Late Nonrelapse Mortality: A Hidden Risk In Triplet Therapy For Idh-Mutated Aml?, Jennifer Marvin-Peek, Courtney D Dinardo

Faculty, Staff and Student Publications

No abstract provided.

Video Conversation Aids To Assist In Goals-Of-Care Discussions With Older Adults In A Medical Setting: A Systematic Review, Ashna S Karpe, Mokunfayo O Fajemisin, Stephanie Martinez Ugarte, Lara Ouellette, Martin L Blakely, Gina H Khraish, Shreyans V Sanghvi, Min J Kwak, Jessica L Lee, Lillian S Kao, Thaddeus J Puzio

Library Staff Publications

Background

Methods

Bias And Disparities In Neonatal End-Of-Life Care, Tamiko Younge, Daria Murosko, Simranjeet S Sran, Terri Major-Kincade

Faculty, Staff and Student Publications

No abstract provided.

High-Risk Medications In Pediatric Dentistry: Patterns, Outcomes, And Clinical Implications, Yilei Liu, Kawtar Zouaidi, Colin C Hubbard, Muhammad F Walji, Matthew R Cooke, Donald B Rindal, Kristin N Ray, Elsbeth Kalenderian, Katie J Suda

Faculty, Staff and Student Publications

Background: High-risk medications such as opioids and benzodiazepines are frequently prescribed in pediatric dental care, yet their prescribing patterns and associated adverse outcomes remain poorly understood. The aim of this study was to determine the extent of such prescribing to pediatric patients and factors associated with adverse outcomes.

Methods: MarketScan data for patients younger than 18 years with a dental visit from 2014 through 2019 were analyzed. High-risk medications included benzodiazepines, barbiturates, and opioids. Composite outcomes included hospitalization, emergency department visit, or urgent care visit within 7 days after the dental visit. Opioid-attributable outcomes included opioid-related overdose within 7 days …

A Model For Developing Subspecialty Clinical Practice Guidelines: The Geriatric Emergency Department Guidelines 20, Satheesh Gunaga, Christopher R Carpenter, Maura Kennedy, Lauren T Southerland, Alexander X Lo, Sangil Lee, Kirby Swan, Fabrice Mowbray, Rachel M Skains, Teresita M Hogan, Martin F Casey, Kei Ouchi, Naomi R George, Kerstin De Wit, Cameron J Gettel, Katherine Selman, Luna C Ragsdale, Anita N Chary, James D Van Oppen, Glenn Arendts, Charles L Maddow, Katherine M Hunold, Katren R Tyler, Danya Khoujah, Ula Hwang, Shan Liu

Faculty, Staff and Students Publications

The original consensus-based Geriatric Emergency Department (GED) Guidelines, published in 2014, established a framework of core principles for delivering high-quality, age-appropriate emergency care for older adults. In response to significant advances in geriatric emergency medicine research and evolving clinical priorities, we developed the GED Guidelines 2.0 to ensure continued relevance, clinical utility, and evidence-based rigor. This concept paper describes the systematic and iterative process undertaken to update the guidelines, including the formation of multidisciplinary working groups and the application of the Grading of Recommendations Assessment, Development, and Evaluation (GRADE) methodology. Unlike the original GED Guidelines, our approach prioritized methodological transparency, …

Real-World First-Line Outcomes Of Alectinib And Brigatinib In Anaplastic Lymphoma Kinase-Positive Non-Small Cell Lung Cancer: A Nationwide South Korean Cohort Study Using The Health Insurance Review And Assessment Data, Hee Jun Kim, Eunyoung Angela Lee, Jin-Hee Park, Hyun Woo Lee

Faculty, Staff and Student Publications

Background: Lung cancer remains the leading cause of cancer-related mortality worldwide. Anaplastic lymphoma kinase (ALK)-positive non-small cell lung cancer (NSCLC) presents unique clinical challenges, including frequent central nervous system (CNS) metastases. At present, comparative real-world data on ALK inhibitors remain limited. This study aimed to compare real-world progression-free survival (PFS) and overall survival (OS) among patients with ALK-positive NSCLC treated with first-line alectinib or brigatinib using nationwide South Korean data.

Methods: This retrospective cohort study analyzed anonymized data from South Korea's Health Insurance Review and Assessment Service, covering January 2007 to December 2023. Patients diagnosed with ALK-positive NSCLC (ICD-10: C34x) …

Potential Mechanisms Of Influence Between Spiritual Practices And Cognitive Health: A Systematic Review And Conceptual Model, Katherine Carroll Britt, Hayoung Oh, Augustine Cassis Obeng Boateng, Sherry Morgan, Sato Ashida, Corey Nagel, Roland J Thorpe, Harold G Koenig

Staff and Researcher Publications

Background/Objectives: This systematic review summarizes the evidence regarding potential mechanisms underlying the relationship between spiritual practices and cognitive health in adults. The review was performed based on the Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) checklist.

Methods: An extensive search of six electronic databases (i.e., PubMed, PsycINFO, Embase, Sociological Abstracts, ATLA, CINAHL) was conducted using keywords related to spiritual practices, religious activities, and cognitive health from 1 January 2000 to December 2025. The quality of the included studies was assessed using the Mixed Methods Appraisal tool aligned with the study design.

Results: A total of …

The Time-Dependent Association Between Irritable Bowel Syndrome And All-Cause And Cause-Specific Mortality In The Nih-Aarp Cohort Study, Daniela S Gutiérrez-Torres, Fangyu Li, Linda M Liao, Carrie R Daniel, Shreela V Sharma, Ruosha Li, Eric L Brown, Qing Lan, Maki Inoue-Choi, Baharak Moshiree, Paul Albert, Rashmi Sinha, Emily Vogtmann

Faculty, Staff and Student Publications

Introduction: Evidence on the association between irritable bowel syndrome (IBS) and mortality is conflicting. In this study, we estimated the association between IBS and all-cause and cause-specific mortality in the NIH-AARP Diet and Health Study.

Methods: IBS diagnoses between 1994 and 2008 were identified from Medicare claims data, and mortality outcomes through 2019 were obtained through linkage to the National Death Index. Using multivariable Cox proportional hazards regression models, we estimated hazard ratios (HRs) and 95% confidence intervals (CIs) for all-cause and cause-specific mortality within partitioned follow-up time categories (>2-5, >5-8, >8-11, >11-14, >14-17, and >17 years) with adjustment …

Family Caregivers' Perspectives On Challenges And Support Needs In Hospital-Based Palliative Care For Persons Living With Dementia, Jung Kwak, Anita Chary, Sarah Stayer, Kwaku Duah Oppong, Sumin Yoon, Snehal Patel, Elizabeth A Kvale

Faculty, Staff and Students Publications

Palliative care needs of hospitalized persons living with dementia (PLWD) and their family caregivers remain poorly understood. This mixed-methods study explored caregivers' perspectives on challenges and support needs when hospitalized PLWD received specialist palliative care consultations. Thirty-two caregivers were recruited from two hospitals; 18 completed interviews and surveys, and 14 completed surveys only. Participants were racially and ethnically diverse (19% Black or African American, 34% Latino or Hispanic). Most identified as women (65%) and adult children (56%). Commonly reported challenges included managing health issues (59%), emotional distress (56%), and decision-making (47%). Thematic analysis of interviews revealed three themes: the value …

Whole-Exome Sequencing-Based Linkage Analysis Of Multiple Myeloma (Mm) And Monoclonal Gammopathy Of Undetermined Significance (Mgus) Pedigrees, Alyssa I Clay-Gilmour, Nicola J Camp, Xiaomu Wei, Angel Earle, Aaron Norman, Jason Sinnwell, Delphine Demangel, Rosalie Griffin, Charles Dumontet, James Mckay, Ken Offit, Vijai Joseph, Siwei Chen, Daniel O'Brien, Vincent Rajkumar, Robert Klein, Shaji Kumar, Steve Lipkin, Celine M Vachon

Faculty, Staff and Student Publications

Background/objectives: Family history is a known risk factor for multiple myeloma (MM) and its precursor condition, monoclonal gammopathy of undetermined significance (MGUS). Previous genome-wide association studies (GWASs) have identified 35 common loci associated with MM risk and 21 associated with MGUS. The objective of this study was to identify less common and rare genetic loci predisposing to MM/MGUS through whole-exome sequencing (WES)-based linkage analysis.

Methods: Multipoint linkage analysis was conducted using the Multipoint Engine for Rapid Likelihood Inference (MERLIN) with the Lander-Green algorithm on germline WES data from 79 pedigrees with 2 or more affected relatives (120 MM, 86 MGUS, …