Digital Commons Network^™

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 …

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 …

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.

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 …

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, …

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 …

A Rare Molecular Diagnosis In A Patient With Hepatocerebral Syndrome Contributes To The Expansion Of The Phenotypic Spectrum Of Polg2 -Related Mitochondrial Disorder, Vittoria Rossi, Dan Brooks, Hongzheng Dai, Elizabeth Mizerik, Karla Salazar, Daniel Davila-Williams, Yishay Ben-Moshe, Seema R Lalani, Sarah H Elsea, Charul Gijavanekar, Daryl A Scott, Keren Machol, Mir Reza Bekheirnia, Fernando Scaglia

Faculty, Staff and Students Publications

POLG2 encodes an accessory subunit in DNA polymerase gamma that is required for mitochondrial DNA synthesis. Monoallelic pathogenic variants in POLG2 are associated primarily with progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant type 4 (PEOA4, MIM #610131). We report a rare case of severe infantile hepatocerebral syndrome associated with biallelic variants in POLG2. The proband, a 5-week-old female infant, presented with seizures and acute liver failure. Extensive metabolic workup, including untargeted metabolomics analysis and elevated plasma growth differentiation factor 15, was suggestive of mitochondrial dysfunction. Rapid trio genome sequencing identified compound heterozygous variants, a likely pathogenic variant and …

Emergency Department-Initiated Palliative Care Screening Among Older Adults: A Systematic Review And Meta-Analysis Protocol, Dimitri E Lin, Satheesh Gunaga, Fabrice I Mowbray, Eric D Isaacs, Daniel Markwalter, Naomi George, Alison E Hay, Rita Manfredi, Erica Westlake, Murtaza Akhter, Jason K Bowman, Naomi Rebollo-Lee, Brian Gacioch, Alexander D Ginsburg, Justin Kenneth Brooten, Sarah Pajka, Katie Selman, Paul Bain, Joshua J Davis, Shan Liu, Kei Ouchi

Faculty, Staff and Students Publications

Introduction: The rapidly growing population of older adults (individuals aged 65 years and older) presents a new set of challenges for healthcare providers in the emergency department (ED), given the prevalence of severe and life-threatening conditions among this group, such as chronic cancer, Alzheimer's disease/dementia and congestive heart failure. ED encounters often represent a critical point in an older patient's trajectory of care and can thus be an important opportunity for various interventions such as palliative care consultation. Therefore, identifying those who will benefit most from palliative care is of high importance, especially in determining the course of future treatment. …

Exploring Patients' Perceptions Of An Advance Care Planning Intervention In The Emergency Department: A Qualitative Study, Youkie Shiozawa, Saaya Morton, Nanako Shirai, Hannah Oelschlager, Lucy Kiernat, Anita N Chary, Anna C Revette, Adrian Haimovich, Smit Desai, Kai-Wei Chang, Shan W Liu, Maura Kennedy, Mara A Schonberg, Kei Ouchi

Faculty, Staff and Students Publications

Objectives: Emergency department (ED) visits offer opportunities for seriously ill patients to formulate future medical care goals, yet ED clinicians lack practical strategies for these conversations. ED GOAL, a behavioral intervention, engages seriously ill yet clinically stable older adults in the ED to address advance care planning (ACP) with their outpatient clinicians. In a randomized trial, goals-of-care documentation was significantly higher in the intervention group compared to controls after three (24.3% vs. 9.9%, p = 0.03) and 6 months (31.4% vs. 12.7%, p < 0.01). This study is a sub-analysis to learn about intervention arm participants' perceived benefits and obstacles of the intervention.

Methods: We conducted semi-structured interviews between October 2022 and August 2024 (N = 52) with intervention-arm patients …

Treatment-Related Adverse Events And Associated Outcomes In Patients With Advanced Urothelial Carcinoma Treated With Enfortumab Vedotin: Analysis Of The Unite Study, Amanda Nizam, Charles B Nguyen, Jinju Li, Emily C Zabor, Pavlos Msaouel, Cindy Y Jiang, Omar Alhalabi, Eugene Oh, Matthew P Davidsohn, Ilana B Epstein, Dimitra Rafailia Bakaloudi, Rafee Talukder, Tanya Jindal, Amy K Taylor, Michael J Glover, Ali Raza Khaki, Emily Lemke, Hannah Mabey, Bashar Abuqayas, Albert Jang, Jason R Brown, Sean T Evans, Cameron Pywell, Arnab Basu, Mehmet A Bilen, Pedro C Barata, Yousef Zakharia, Matthew I Milowsky, Deepak Kilari, Christopher J Hoimes, Sumit A Shah, Hamid Emamekhoo, Nancy B Davis, Shilpa Gupta, Petros Grivas, Joaquim Bellmunt, Matthew T Campbell, Ajjai S Alva, Vadim S Koshkin

Faculty, Staff and Students Publications

Introduction: Enfortumab vedotin-ejfv (EV), an antibody-drug conjugate approved for advanced urothelial carcinoma (aUC), has limited real-world safety data and no validated predictive biomarkers. Retrospective studies suggest higher objective response rates (ORR) among patients developing EV-related dermatologic toxicities, but survival implications remain unclear. This analysis assessed the safety of EV monotherapy and the impact of dermatologic and neurologic toxicities on efficacy outcomes in a multi-institutional cohort.

Materials and methods: UNITE is a multicenter, retrospective study across 16 US sites of patients with aUC treated with targeted agents, including EV. Primary endpoints were the incidence of EV treatment-related adverse events (TRAEs, any …

Social Disparities, Delirium Occurrence, And Related Outcomes Among Hospitalized Older Adults, Alan P Pan, Kathryn Agarwal, Thomas Potter, Karim Borei, Sara Nowakowski, Courtenay R Bruce, George E Taffet, Farhaan S Vahidy

Faculty, Staff and Students Publications

Background: Underlying socio-economic and health burden may variably impact delirium presentation among older adults. We characterized differences in patient factors related to social marginalization and studied their effects on delirium occurrence and hospital outcomes.

Methods: We conducted a 7-year retrospective analysis of older adults (aged ≥ 70 years) who systematically underwent screening for delirium at an 8-hospital healthcare system. Our primary exposure included patient characteristics related to demographics and social marginalization. Multivariable logistic regression models were built to identify factors associated with increased odds of delirium occurrence, either (1) present-on-admission (D-POA) or (2) hospital-acquired (HAD). Secondary outcomes included hospital length …

Pediatric Heart Failure: A Practical Guide For Primary Care Providers Supporting Families Across The Care Continuum, Shahnawaz Amdani, Kriti Puri, Julie Glickstein, Joseph A Spinner, Jonathan N Johnson, Ashraf S Harahsheh, Majd Makhoul, Susan Denfield

Faculty, Staff and Students Publications

Background/Objectives: Pediatric heart failure (HF) is a complex clinical syndrome with diverse etiologies and presentations. Primary care providers (PCPs) are critical in early recognition, family education, and coordination of ongoing care in collaboration with pediatric cardiologists. This review provides a comprehensive guide for PCPs to understand the causes, symptoms, treatments, and longitudinal considerations for children with HF.

Methods: We conducted a narrative review synthesizing published evidence and expert consensus guidelines, focusing on the clinical presentation, treatment options, and longitudinal care strategies in children with HF.

Results: HF in children most commonly results from congenital heart disease and …

Galntl5 Binds Galnac And Is Required For Migration Through The Uterotubal Junction And Sperm-Zona Pellucida Binding, Taichi Noda, Reika Uriu, Daisuke Mashiko, Hina Shinohara, Yongcun Qu, Ayumu Taira, Ryan M Matzuk, Duri Tahala, Motochika Nakano, Kimi Araki, Zhifeng Yu, Ying Zhang, Martin M Matzuk, Masahito Ikawa

Faculty, Staff and Students Publications

Objective: To review the global impact of the COVID-19 pandemic on stroke care-metrics and report data from a health system in Houston.

Methods: We performed a meta-analysis of the published literature reporting stroke admissions, intracerebral hemorrhage (ICH) cases, number of thrombolysis (tPA) and thrombectomy (MT) cases, and time metrics (door to needle, DTN; and door to groin time, DTG) during the pandemic compared to prepandemic period. Within our hospital system, between January-June 2019 and January-June 2020, we compared the proportion of stroke admissions and door to tPA and MT times.

Results: A total of 32,640 stroke admissions from 29 studies …

Comparative Effectiveness Of Less Vs More Frequent Hydrocortisone Dosing In Septic Shock, Alan Hao, Tianshi David Wu, Keegan Collins, Danielle Guffey, Rebecca Kessinger, Meghna Vallabh, Ali Omranian

Faculty, Staff and Students Publications

Objectives: Guidelines recommend hydrocortisone as an adjunctive treatment in septic shock, but the optimal dosing regimen is unknown. A national shortage of hydrocortisone in 2023 prompted a change in institutional practice for hydrocortisone administration from 50 mg every 6 hours to 100 mg every 12 hours in an effort to reduce waste and conserve vials, creating an opportunity to evaluate the comparative effectiveness of these two regimens. The primary efficacy outcome was time to shock resolution, and secondary outcomes evaluated in this study were mortality, renal replacement therapy (RRT), medication costs, and maximum vasopressor dose attained.

Design: Single-center, retrospective cohort …

Understanding The Why: Patient, Parent, And Oncologist Perspectives On Prognostic Communication Preferences In Advanced Childhood Cancer, Erin Batchelor, Rachel A Kentor, Calliope Reeves, Harmony Farner, Shoshana Mehler, Caroline Christianson, Erica C Kaye

Faculty, Staff and Students Publications

Background/objectives: High-quality prognostic communication in pediatric oncology is essential to support informed decision making, foster trust, and honor goals of care. While families differ in their preferences for how prognosis is discussed, clinicians often rely on assumptions rather than directly eliciting these preferences, risking misalignment and distress. To address this gap, we aimed to characterize patient, parent, and oncologist perspectives on key variables, experiences, and circumstances that influence their preferences for prognostic communication.

Methods: Semi-structured interviews were conducted with 85 participants (25 patients aged 12-25, 40 parents, and 20 oncologists) to elicit their preferences for prognostic communication and the reasons …

Survival To Hospital Discharge In The Fetus With Moderate To Severe Mitral Regurgitation Either In Isolation Or In Combination With Aortic Valve Stenosis Or Atresia, A Fetal Heart Society Collaborative Study, Betul Yilmaz Furtun, Kavitha Pundi, Anita Moon-Grady, Nicole Cresalia, Asela Nieuwsma, Sarah K Gelehrter, Bhawna Arya, Mary T Donofrio, Christopher Statile, Ann Kavanaugh-Mchugh, Lindsay Freud, Elijah Bolin, Megan Warner, Sowmya Balasubramanian, James Strainic, Carol Wittlieb-Weber, Nelangi M Pinto, Lisa Hornberger, Shaine A Morris

Faculty, Staff and Students Publications

Background: Case series report high mortality after fetal diagnosis of moderate to severe mitral regurgitation in combination with left atrial dilation, hydrops, or restrictive atrial septum. However, overall outcomes and specific high-risk features remain unclear.

Methods: We performed a multicenter retrospective cohort study of fetuses with ≥moderate mitral regurgitation and normal cardiac connections evaluated January 1, 2005 to January 31, 2016. Fetuses undergoing fetal cardiac intervention (FCI) were described separately. We assessed associations between fetal echocardiographic features and discharge mortality using mixed logistic regression and classification and regression tree modeling, stratified by studies performed < 28 and ≥28 weeks gestational age (GA).

Results: Of 67 fetuses, 96% had …

Development And Validation Of A Novel Clinical Risk Score To Predict Hypoxaemia In Children With Pneumonia Using The Who Prepare Dataset, Rainer Tan, Arjun Chandna, Tim Colbourn, Shubhada Hooli, Carina King, Norman Lufesi, Eric D Mccollum, Charles Mwansambo, Joseph L Mathew, Clare L Cutland, Shabir A Madhi, Marta Nunes, Sudha Basnet, Tor A Strand, Kerry-Ann F O'Grady, Brad Gessner, Emmanuel Addo-Yobo, Noel Chisaka, Patricia Hibberd, Prakash M Jeena, Juan M Lozano, William B Maleod, Archana Patel, Donald M Thea, Ngoc Tuong Vy Nguyen, Marilla Lucero, Syed Mohammad Akram Uz Zaman, Shinjini Bhatnagar, Nitya Wadhwa, Rakesh Lodha, Satinder Aneja, Mathuram Santosham, Shally Awasthi, Ashish Bavdekar, Monidarin Chou, Pagbajabyn Nymadawa, Jean William Pape, Glaucia Paranhos-Baccala, Valentina S Picot, Mala Rakoto-Andrianarivelo, Vanessa Rouzier, Graciela Russomando, Mariam Sylla, Philippe Vanhems, Jianwei Wang, Romina Libster, Alexey W Clara, Fenella Beynon, Gillian Levine, Chris A Rees, Mark I Neuman, Shamim Qazi, Yasir Bin Nisar, World Health Organization Prepare Study Group

Faculty, Staff and Students Publications

Background: Hypoxaemia predicts mortality at all levels of care, and appropriate management can reduce preventable deaths. However, pulse oximetry and oxygen therapy remain inaccessible in many primary care health facilities. We aimed to develop and validate a simple risk score comprising commonly evaluated clinical features to predict hypoxaemia in 2-59-month-old children with pneumonia.

Methods: Data from seven studies conducted in five countries from the Pneumonia Research Partnership to Assess WHO Recommendations (PREPARE) dataset were included. Readily available clinical features and demographic variables were used to develop a multivariable logistic regression model to predict hypoxemia (oxygen saturation < 90%) at presentation to care. The adjusted log coefficients were transformed to derive the PREPARE hypoxemia risk score and its diagnostic value was assessed in a held-out, temporal validation dataset. The model and risk score were analysed by evaluating the area under the receiver operating characteristic curve (AUC), sensitivity and specificity.

Results: We included 14 …

The Use Of Biased Language In The Care Of Seriously Ill Children: A Pilot Study, Terri Major-Kincade, Erin Kim, Cameron A Price, Ankona Banerjee, Nikashia Franklin, Israel Castañeda Almendárez, Jaime Jump, Jared Rubenstein, Jill Ann Jarrell

Faculty, Staff and Students Publications

Background

Objective

Setting/Participants

Assessment Of Frailty In Patients With Heart Failure: A New Heart Failure Frailty Score Developed By Delphi Consensus, Cristiana Vitale, Emmanuelle Berthelot, Andrew J S Coats, Hill Loreena, Nancy M Albert, Michal Tkaczyszyn, Stamatis Adamopoulos, Lisa Anderson, Markus S Anker, Stefan D Anker, Derek Bell, Tuvia Ben-Gal, Vasiliki Bistola, Biykem Bozkurt, Poppy Brooks, Miguel Camafort, Juan Jesus Carrero, Ovidiu Chioncel, Dong-Ju Choi, Wook-Jin Chung, Wolfram Doehner, Daniel Fernández-Bergés, Roberto Ferrari, Mona Fiuzat, Juan Esteban Gomez-Mesa, Finn Gustafsson, Ewa Jankowska, Seok-Min Kang, Koichiro Kinugawa, Kamlesh Khunti, F D Richard Hobbs, Christopher Lee, Yuri Lopatin, Matthew Maddocks, Giuseppe Maltese, Elena Marques-Sule, Yuya Matsue, Òscar Miró, Brenda Moura, Massimo Piepoli, Piotr Ponikowski, Giovanni Pulignano, Amina Rakisheva, Robin Ray, Angela Sciacqua, Petar Seferovic, Trinidad Sentandreu-Mañó, Shirley Sze, Alan Sinclair, Anna Strömberg, Olga Theou, Hiroyuki Tsutsui, Izabella Uchmanowicz, Maria Teresa Vidan, Maurizio Volterrani, Stephan Von Haehling, Byungsu Yoo, Jian Zhang, Yuhui Zhang, Marco Metra, Giuseppe Massimo Claudio Rosano

Faculty, Staff and Students Publications

Aims: The Heart Failure Frailty Score (HFFS) is a novel, multidimensional tool to assess frailty in patients with heart failure (HF). It has been developed to overcome limitations of existing frailty assessment tools while being practical for clinical use. The HFFS reflects the concept of frailty as a multidimensional, dynamic and potentially reversible state, which increases vulnerability to stressors and risk of poor outcomes in patients with HF.

Methods and results: The HFFS was developed through a Delphi consensus process involving 54 international experts. This approach involved iterative rounds of questionnaires and interviews, where a panel of experts provided their …

Clinical And Genetic Delineation Of Autosomal Recessive And Dominant Actl6b-Related Developmental Brain Disorders, Elisa Cali, Tania Quirin, Clarissa Rocca, Stephanie Efthymiou, Antonella Riva, Dana Marafi, Maha S Zaki, Mohnish Suri, Roberto Dominguez, Hasnaa M Elbendary, Shahryar Alavi, Mohamed S Abdel-Hamid, Heba Morsy, Frederic Tran Mau-Them, Mathilde Nizon, Pavel Tesner, Lukáš Ryba, Faisal Zafar, Nuzhat Rana, Nebal W Saadi, Zahra Firoozfar, Pinar Gencpinar, Bulent Unay, Canan Ustun, Ange-Line Bruel, Christine Coubes, Jennifer Stefanich, Ozlem Sezer, Emanuele Agolini, Antonio Novelli, Gessica Vasco, Donatella Lettori, Mathieu Milh, Laurent Villard, Shimriet Zeidler, Henry Opperman, Vincent Strehlow, Mahmoud Y Issa, Hebatallah El Khassab, Prem Chand, Shahnaz Ibrahim, Ali Rashidi-Nezhad, Mohammad Miryounesi, Pegah Larki, Jennifer Morrison, Ingrid Cristian, Isabelle Thiffault, Nicole L Bertsch, Grace J Noh, John Pappas, Ellen Moran, Nikolaos M Marinakis, Joanne Traeger-Synodinos, Susan Hosseini, Mohammad Reza Abbaszadegan, Roseline Caumes, Lisenka E L M Vissers, Maedeh Neshatdoust, Mostafa Montazer Zohour, Elmostafa El Fahime, Christina Canavati, Lara Kamal, Moien Kanaan, Omar Askander, Victoria Voinova, Olga Levchenko, Shahzhad Haider, Sara S Halbach, Rayana Elias Maia, Salehi Mansoor, Vivek Jain, Sanjukta Tawde, Viveka Santhosh R Challa, Vykuntaraju K Gowda, Varunvenkat M Srinivasan, Lucas Alves Victor, Benito Pinero-Banos, Jennifer Hague, Heba Ahmed Elawady, Adelia Maria De Miranda Henriques-Souza, Huma Arshad Cheema, Muhammad Nadeem Anjum, Sara Idkaidak, Firas Alqarajeh, Osama Atawneh, Hagar Mor-Shaked, Tamar Harel, Giovanni Zifarelli, Peter Bauer, Fernando Kok, Joao Paulo Kitajima, Fabiola Monteiro, Juliana Josahkian, Gaetan Lesca, Nicolas Chatron, Dorothe Ville, David Murphy, Jeffrey L Neul, Sureni V Mullegama, Amber Begtrup, Isabella Herman, Tadahiro Mitani, Jennifer E Posey, Chee Geap Tay, Iram Javed, Lucinda Carr, Farah Kanani, Fiona Beecroft, Lee Hane, Elsayed Abdelkreem, Milan Macek, Luciana Bispo, Marwa Abd Elmaksoud, Farzad Hashemi-Gorji, Davut Pehlivan, David J Amor, Rami Abou Jamra, Wendy K Chung, Eshan Ghayoor Karimiani, Philippe M Campeau, Fowzan S Alkuraya, Alistair T Pagnamenta, Joseph G Gleeson, James R Lupski, Pasquale Striano, Andres Moreno-De-Luca, Denis L J Lafontaine, Henry Houlden, Reza Maroofian

Faculty, Staff and Students Publications

Purpose: This study aims to comprehensively delineate the phenotypic spectrum of ACTL6B-related disorders, previously associated with both autosomal recessive and autosomal dominant neurodevelopmental disorders. Molecularly, the role of the nucleolar protein ACTL6B in contributing to the disease has remained unclear.

Methods: We identified 105 affected individuals, including 39 previously reported cases, and systematically analyzed detailed clinical and genetic data for all individuals. Additionally, we conducted knockdown experiments in neuronal cells to investigate the role of ACTL6B in ribosome biogenesis.

Results: Biallelic variants in ACTL6B are associated with severe-to-profound global developmental delay/intellectual disability, infantile intractable seizures, absent speech, autistic features, dystonia, …

Chronic Hepatitis And Hemophagocytic Lymphohistiocytosis Associated With Systemic Chronic Active Epstein-Barr Virus Disease, Emmanuel Palomera-Tejeda, Lauren Shaffer, Michael Shi, Nagasri Shankar, Roshan Raza, George Cholankeril

Faculty, Staff and Students Publications

Systemic chronic active Epstein-Barr virus (EBV) disease is a rare, delayed, and life-threatening complication of EBV infection. It is characterized by persistent viremia and a mononucleosis-like syndrome with multisystemic involvement because of lymphocytic tissue infiltration. We present the case of an 82-year-old woman without known immunodeficiency who presented with abnormal liver enzymes and interstitial pneumonia. Investigations revealed hyperferritinemia, elevated soluble interleukin-2 receptor levels, hypofibrinogenemia, and hepatosplenomegaly, consistent with hemophagocytic lymphohistiocytosis, as well as a high EBV viral load. Liver biopsy demonstrated portal chronic lymphocytic inflammation and positive EBV in situ hybridization, suggesting systemic chronic active Epstein-Barr virus disease as the …

Implementation Of Electronic Triggers To Identify Diagnostic Errors In Emergency Departments, Viralkumar Vaghani, Ashish Gupta, Usman Mir, Li Wei, Daniel R Murphy, Umair Mushtaq, Dean F Sittig, Andrew J Zimolzak, Hardeep Singh

Faculty, Staff and Students Publications

Importance: Missed diagnosis can lead to preventable patient harm.

Objective: To develop and implement a portfolio of electronic triggers (e-triggers) and examine their performance for identifying missed opportunities in diagnosis (MODs) in emergency departments (EDs).

Design, setting, and participants: In this retrospective medical record review study of ED visits at 1321 Veterans Affairs health care sites, rules-based e-triggers were developed and implemented using a national electronic health record repository. These e-triggers targeted 6 high-risk presentations for MODs in treat-and-release ED visits. A high-risk stroke e-trigger was applied to treat-and-release ED visits from January 1, 2016, to December 31, 2020. A …

Hospice Patients In The Emergency Department: Challenging High-Risk Encounters With Unanswered Questions And Unquestioned Answers, Jason K Bowman, Joan M Teno, Kei Ouchi

Faculty, Staff and Students Publications

No abstract provided.

Utility Of Microbial Cell-Free Dna Sequencing In The Diagnosis Of Mycobacterial Infections In A Quaternary Care Center, Fernando H Centeno, Todd Lasco, Ahmed M Hamdi, Mayar Al Mohajer

Faculty, Staff and Students Publications

We examine the performance of microbial cell-free DNA (mcfDNA) next-generation sequencing (NGS) testing on patients admitted to a quaternary care hospital in Houston, Texas. The test was 75.0% sensitive and 97.8% specific for all mycobacterial infections. mcfDNA NGS results led to adjustments in antimicrobial therapy for seven of nine patients with positive results.

Causes Of Death Across Different Locations In The United States, 2015 To 2022, Taha Mansoor, Daniyal Shahid, Kartik Gupta, Dmitry Abramov, Salim S Virani, Abdul Mannan Khan Minhas

Faculty, Staff and Students Publications

Objective: The objective of this study was to investigate the leading underlying causes of death across different locations in the USA from 2015 to 2022.

Methods: Data on the leading underlying causes of death in each location of death-including medical outpatient facility or emergency room, medical inpatient facility, medical facility/dead on arrival, decedent's home, hospice facility, and nursing home/long-term care-within the USA in individuals ≥18 years were extracted from the Centers for Disease Control and Prevention Wide-Ranging Online Data for Epidemiologic Research (CDC WONDER) database.

Results: There were 22,236,700 deaths in our studied locations during the study period. Most deaths …

Long-Term Mortality Following Sars-Cov-2 Infection In Rural Versus Urban Dwellers With Autoimmune Or Inflammatory Rheumatic Disease: A Retrospective Cohort Analysis From The National Covid Cohort Collaborative, A Jerrod Anzalone, Lesley E Jackson, Namrata Singh, Maria I Danila, Elizabeth Reisher, Rena C Patel, Jasvinder A Singh

Faculty, Staff and Students Publications

Objective: Autoimmune or inflammatory rheumatic diseases (AIRDs) increase the risk for poor COVID-19 outcomes. Although rurality is associated with higher post-COVID-19 mortality in the general population, whether rurality elevates this risk among people with AIRD is unknown. We assessed associations between rurality and post-COVID-19 all-cause mortality, up to two years post infection, among people with AIRD using a large nationally sampled US cohort.

Methods: This retrospective study used the National COVID Cohort Collaborative, a medical records repository containing COVID-19 patient data. We included adults with two or more AIRD diagnostic codes and a COVID-19 diagnosis documented between April 2020 and …

Temporal Trends In Mortality Related To Stroke And Atrial Fibrillation In The United States: A 21-Year Retrospective Analysis Of Cdc-Wonder Database, Owais Ahmad, Hanzala Ahmed Farooqi, Isra Ahmed, Adeena Jamil, Rayyan Nabi, Irfan Ullah, Abdul Wali Khan, Raheel Ahmed, Mahboob Alam, Bernardo Cortese, Mamas A Mamas

Faculty, Staff and Students Publications

Aims: Atrial Fibrillation (AF) is one of the most strongly associated risk factors for stroke. Our study aims to analyze changes in mortality from 1999 to 2020 in patients with AF and stroke.

Methods: Using the Centre for Disease Control and Prevention Wide-Ranging Online Data for Epidemiologic Research (CDC-WONDER), we retrospectively analyzed annual age-adjusted mortality rates (AAMR) per million from 1999 to 2020 in stroke patients with AF. Temporal trends were analyzed, and Annual Percentage Change (APC) was calculated using the JoinPoint regression model across variations in demographics (sex, race) and regional subgroups.

Results: Around 490 000 deaths were reported …