Public Health Commons^™

Clonal Hematopoiesis Is Associated With Higher Risk Of Stroke, Romit Bhattacharya, Seyedeh M Zekavat, Jeffrey Haessler, Myriam Fornage, Laura Raffield, Md Mesbah Uddin, Alexander G Bick, Abhishek Niroula, Bing Yu, Christopher Gibson, Gabriel Griffin, Alanna C Morrison, Bruce M Psaty, William T Longstreth, Joshua C Bis, Stephen S Rich, Jerome I Rotter, Russell P Tracy, Adolfo Correa, Sudha Seshadri, Andrew Johnson, Jason M Collins, Kathleen M Hayden, Tracy E Madsen, Christie M Ballantyne, Siddhartha Jaiswal, Benjamin L Ebert, Charles Kooperberg, Joann E Manson, Eric A Whitsel, Nhlbi Trans-Omics For Precision Medicine Program, Pradeep Natarajan, Alexander P Reiner

Faculty, Staff and Student Publications

Background and purpose: Clonal hematopoiesis of indeterminate potential (CHIP) is a novel age-related risk factor for cardiovascular disease-related morbidity and mortality. The association of CHIP with risk of incident ischemic stroke was reported previously in an exploratory analysis including a small number of incident stroke cases without replication and lack of stroke subphenotyping. The purpose of this study was to discover whether CHIP is a risk factor for ischemic or hemorrhagic stroke.

Methods: We utilized plasma genome sequence data of blood DNA to identify CHIP in 78 752 individuals from 8 prospective cohorts and biobanks. We then assessed the association …

Fungi: Friend Or Foe? A Mycobiome Evaluation In Children With Autism And Gastrointestinal Symptoms, Jane Alookaran, Yuying Liu, Thomas A Auchtung, Amirali Tahanan, Manouchehr Hessabi, Parisa Asgarisabet, Mohammad H Rahbar, Nicole Y Fatheree, Deborah A Pearson, Rosleen Mansour, Melissa R Van Arsdall, Fernando Navarro, J Marc Rhoads

Faculty, Staff and Student Publications

Gastrointestinal (GI) symptoms often affect children with autism spectrum disorders (ASD) and GI symptoms have been associated with an abnormal fecal microbiome. There is limited evidence of Candida species being more prevalent in children with ASD. We enrolled 20 children with ASD and GI symptoms (ASD + GI), 10 children with ASD but no GI symptoms (ASD - GI), and 20 from typically developing (TD) children in this pilot study. Fecal mycobiome taxa were analyzed by Internal Transcribed Spacer sequencing. GI symptoms (GI Severity Index [GSI]), behavioral symptoms (Social Responsiveness Scale -2 [SRS-2]), inflammation and fungal immunity (fecal calprotectin and …

Type 2 Diabetes Partitioned Polygenic Scores Associate With Disease Outcomes In 454,193 Individuals Across 13 Cohorts, Daniel Dicorpo, Jessica Leclair, Joanne B Cole, Chloé Sarnowski, Fariba Ahmadizar, Lawrence F Bielak, Anneke Blokstra, Erwin P Bottinger, Layal Chaker, Yii-Der I Chen, Ye Chen, Paul S De Vries, Tariq Faquih, Mohsen Ghanbari, Valborg Gudmundsdottir, Xiuqing Guo, Natalie R Hasbani, Dorina Ibi, M Arfan Ikram, Maryam Kavousi, Hampton L Leonard, Aaron Leong, Josep M Mercader, Alanna C Morrison, Girish N Nadkarni, Mike A Nalls, Raymond Noordam, Michael Preuss, Jennifer A Smith, Stella Trompet, Petra Vissink, Jie Yao, Wei Zhao, Eric Boerwinkle, Mark O Goodarzi, Vilmundur Gudnason, J Wouter Jukema, Sharon L R Kardia, Ruth J F Loos, Ching-Ti Liu, Alisa K Manning, Dennis Mook-Kanamori, James S Pankow, H Susan J Picavet, Naveed Sattar, Eleanor M Simonsick, W M Monique Verschuren, Ko Willems Van Dijk, Jose C Florez, Jerome I Rotter, James B Meigs, Josée Dupuis, Miriam S Udler

Faculty, Staff and Student Publications

OBJECTIVE: Type 2 diabetes (T2D) has heterogeneous patient clinical characteristics and outcomes. In previous work, we investigated the genetic basis of this heterogeneity by clustering 94 T2D genetic loci using their associations with 47 diabetes-related traits and identified five clusters, termed β-cell, proinsulin, obesity, lipodystrophy, and liver/lipid. The relationship between these clusters and individual-level metabolic disease outcomes has not been assessed.

RESEARCH DESIGN AND METHODS: Here we constructed individual-level partitioned polygenic scores (pPS) for these five clusters in 12 studies from the Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) consortium and the UK Biobank (n = 454,193) …

Younger Age Of Stroke In Low-Middle Income Countries Is Related To Healthcare Access And Quality, Mohammad H Rahbar, Martin Medrano, Franck Diaz-Garelli, Cosme Gonzalez Villaman, Sepideh Saroukhani, Sori Kim, Amirali Tahanan, Yahaira Franco, Gelanys Castro-Tejada, Sarah A Diaz, Manouchehr Hessabi, Sean I Savitz

Faculty, Staff and Student Publications

Stroke is the second leading cause of mortality globally with higher burden and younger age in low-middle income countries (LMICs) than high-income countries (HICs). However, it is unclear to what extent differences in healthcare access and quality (HAQ) and prevalence of risk factors between LMICs and HICs contribute to younger age of stroke in LMICs. In this systematic review, we conducted meta-analysis of 67 articles and compared the mean age of stroke between LMICs and HICs, before and after adjusting for HAQ index. We also compared the prevalence of main stroke risk factors between HICs and LMICs. The unadjusted mean …

Of Vascular Defense, Hemostasis, Cancer, And Platelet Biology: An Evolutionary Perspective, David G Menter, Vahid Afshar-Kharghan, John Paul Shen, Stephanie L Martch, Anirban Maitra, Scott Kopetz, Kenneth V Honn, Anil K Sood

Faculty, Staff and Student Publications

We have established considerable expertise in studying the role of platelets in cancer biology. From this expertise, we were keen to recognize the numerous venous-, arterial-, microvascular-, and macrovascular thrombotic events and immunologic disorders are caused by severe, acute-respiratory-syndrome coronavirus 2 (SARS-CoV-2) infections. With this offering, we explore the evolutionary connections that place platelets at the center of hemostasis, immunity, and adaptive phylogeny. Coevolutionary changes have also occurred in vertebrate viruses and their vertebrate hosts that reflect their respective evolutionary interactions. As mammals adapted from aquatic to terrestrial life and the heavy blood loss associated with placentalization-based live birth, platelets …

Determinant Of Repeat Revascularization Within 5 Years Of Percutaneous Coronary Lntervention At A Tertiary Care Hospital, Karachi: A Matched Case-Control Study, Komal Valliani, Azmina Artani, Iqbal Azam, Javed Tai, M. Masood Kadir

Community Health Sciences

Objective: To determine factors associated with repeat revascularization among adults aged 25 years and above within 5 years of first Percutaneous Coronary Intervention (PCI) at a tertiary care hospital.
Methods: A matched case-control study was conducted through a hospital records review. A total of 90 cases with repeat revascularization and 180 controls without repeat revascularization were included. Data was analyzed using Multiple Conditional Logistic Regression.
Results: The mean age was similar in cases and controls (60.05 ± 10.01 vs 62.20 ± 10.43 years) and sex (male: 77.8% vs. 76.1%). History of being an ever-smoker (40% vs. 25%), overweight (36.3% vs. …

In Silico Analysis Of Dnd1 And Its Co-Expressed Genes In Human Cancers, Yun Zhang, Yafang Li, Dhruv Chachad, Bin Liu, Jyotsna D Godavarthi, Abie Williams-Villalobo, Latifat Lasisi, Shunbin Xiong, Angabin Matin

Faculty, Staff and Students Publications

Dead-End (DND1) is an RNA-binding protein involved in translational regulation. Defects in DND1 gene causes germ cell tumors and sterility in rodents. Experimental studies with human somatic cancer cells indicate that DND1 has anti-proliferative and pro-apoptotic function in some while oncogenic function in other cells. We examined The Cancer Genome Atlas data for gene alterations and gene expression changes in DND1 in a variety of human cancers. We found that DND1 is amplified, deleted or mutated in multiple human cancers. In different cancers, DND1 alteration correlates with increased diagnosis age of patients, shift in tumor spectrum or change of tumor …

Variants Associated With Bedaquiline (Bdq) Resistance Identified In Rv0678 And Efflux Pump Genes In Mycobacterium Tuberculosis Isolates From Bdq Naïve Tb Patients In Pakistan, Dania Khalid Saeed, Sadia Shakoor, Safina Abdul Razzak, Zahra Hasan, Saba Faraz Sabzwari, Zahida Azizullah, Akber Kanji, Asghar Nasir, Samreen Shafiq, Najia Karim Ghanchi, Rumina Hasan

Department of Pathology and Laboratory Medicine

Background: Mutations in the Rv0678, pepQ and atpE genes of Mycobacterium tuberculosis (MTB) have been reported to be associated with reduced antimycobacterial susceptibility to bedaquiline (BDQ). Resistance conferring mutations in treatment naïve MTB strains is likely to have implications for BDQ based new drug regimen that aim to shorten treatment duration. We therefore investigated the genetic basis of resistance to BDQ in MTB clinical isolates from BDQ naïve TB patients from Pakistan. In addition, mutations in genes associated with efflux pumps were investigated as an alternate mechanism of resistance.
Methods: Based on convenience sampling, we studied 48 MTB clinical isolates …

Understanding The Needs Of A Mobile Phone-Based Telemonitoring Program For Pregnant Women At High Risk For Pre-Eclampsia: Interpretive Qualitative Description Study, Anam Shahil Feroz, Kristina De Vera, Nadia D. Bragagnolo, Sarah Saleem, Zulfiqar Ahmed Bhutta, Emily Seto

Community Health Sciences

Background: Lack of early risk detection, diagnosis, and treatment of pregnant women at high risk for pre-eclampsia can result in high maternal mortality and morbidity not only in Pakistan but also in other low- to middle-income countries (LMICs). A potential tool for supporting pregnant women at high risk for pre-eclampsia for early detection is telemonitoring (TM). However, there is a limited body of evidence on end-user needs and preferences to inform the design of the TM programs for pregnant women at high risk for pre-eclampsia, specifically in LMICs such as Pakistan.
Objective: This study aims to explore the needs of …

Covid-19 Newsletter (Vol. 107), Center For Disaster Medicine, New York Medical College

COVID-19 Newsletter

No abstract provided.

The Unspoken Grief Of Multiple Stillbirths In Rural Pakistan: An Interpretative Phenomenological Study, Muhammad Asim, Sehrish Karim, Hajra Khwaja, Waqas Hameed, Sarah Saleem

Community Health Sciences

Background: Pakistan has the highest rate of stillbirth (30.6 stillbirths per 1000 total births) as compared to other South Asian countries. The psychological impact of stillbirths on bereaved women is well documented; however, there is a dearth of literature on lived experiences of women with multiple stillbirths in Pakistan.
Objective: The purpose of this research is to understand the lived experiences of women who had multiple stillbirths in Thatta, Pakistan.
Methods: An interpretative phenomenological study was conducted in district Thatta with eight women who experienced more than one stillbirth. A semi-structured in-depth interview guide was used for data collection. The …

'Analogy-Based Comprehensive Diabetes Education' (Abcde) Improves Glycemic Control Of Diabetic Patients In An Underserved Population: Results Of A Retrospective Chart Analysis, Rajagopal V Sekhar

Faculty, Staff and Students Publications

Diabetes is the leading global cause for blindness, kidney failure and amputations. Preventing these complications requires optimal glycemic control, and it is imperative that diabetic patients understand the fundamental concepts of diabetes care. Although patients attend formal diabetes education classes, many do not comprehend basic concepts of diabetes, and are often noncompliant with diet, exercise and medications. A novel approach termed 'analogy-based comprehensive diabetes education' (ABCDE) was developed to educate HIV-patients with diabetes about basic concepts of diabetes care. The object of this manuscript is to report the results of a retrospective chart review on the impact of ABCDE on …

Pulmonary Post-Acute Sequelae Of Covid-19, Usman Akbar, Shivam Gulati, Johnny Zakhour Md, Alex Glynn, Jose Bordon

The University of Louisville Journal of Respiratory Infections

Introduction: Persistent symptoms have been observed in a substantial proportion of survivors of COVID-19 since relatively early in the pandemic. Among these post-acute sequelae of COVID-19 (PASC), respiratory symptoms appear to be the most prevalent.

Methods: We conducted a literature review of peer-reviewed publications in English on the clinical and epidemiological features of respiratory PASC in cohorts of 100 or more patients with a follow-up of four weeks or more after acute infection. Included studies reported the prevalence of persistent respiratory symptoms and/or the results of follow-up pulmonary function tests.

Results: On our review included 14 studies across eight countries …

Compliance With Guidelines For Treatment Of Staphylococcus Aureus Bacteremia Is Associated With Decreased Mortality In Patients Hospitalized For Community-Acquired Pneumonia With Staphylococcus Aureus Bacteremia, Leslie Beavin, Vidyulata Salunkhe, Shashvin Singh, Ahmed Gana, Balaji Sekaran, Mahder A. Tella, Stephen P. Furmanek, Forest W. Arnold

The University of Louisville Journal of Respiratory Infections

Introduction: Staphylococcus aureus bacteremia has a minimum treatment duration of two weeks, while S. aureus community-acquired pneumonia (CAP) treatment is at least five days. Treatment failure, persistent bacteremia, and recurrence are common among patients with community-acquired S. aureus bacteremia. There is conflicting information in the current Infectious Diseases Society of America (IDSA) guidelines for the treatment of S.aureus bacteremia patients with CAP. Therefore, the appropriate treatment duration and modality for S. aureus CAP with bacteremia is unclear. The objective of this study was to compare outcomes among patients with S. aureus CAP and bacteremia treated in compliance versus non-compliance with …

Allosteric Determinants Of The Sars-Cov-2 Spike Protein Binding With Nanobodies: Examining Mechanisms Of Mutational Escape And Sensitivity Of The Omicron Variant, Gennady M. Verkhivker

Mathematics, Physics, and Computer Science Faculty Articles and Research

Structural and biochemical studies have recently revealed a range of rationally engineered nanobodies with efficient neutralizing capacity against the SARS-CoV-2 virus and resilience against mutational escape. In this study, we performed a comprehensive computational analysis of the SARS-CoV-2 spike trimer complexes with single nanobodies Nb6, VHH E, and complex with VHH E/VHH V nanobody combination. We combined coarse-grained and all-atom molecular simulations and collective dynamics analysis with binding free energy scanning, perturbation-response scanning, and network centrality analysis to examine mechanisms of nanobody-induced allosteric modulation and cooperativity in the SARS-CoV-2 spike trimer complexes with these nanobodies. By quantifying energetic and allosteric …

Covid-19 Newsletter (Vol. 106), Center For Disaster Medicine, New York Medical College

COVID-19 Newsletter

No abstract provided.

Implementation Of A Drive-Through Covid-19 Mass Vaccination Site: Experiences From Louvax–Broadbent In Louisville, Kentucky, Ruth Carrico, Sarah Beth Hartlage, Valenchia Brown Msn, Aprn, Fnp-C, Sarah M. Bishop, Luanne Didelot, William Hayden, Beverly Williams Coleman, Sarah Tan, Delanor Manson, Kellie Kane, Dawn Balcom, Paul Kern

The University of Louisville Journal of Respiratory Infections

Background: Response to the COVID-19 pandemic has required innovative approaches to vaccination, including methods to rapidly and safely immunize communities. A major challenge to such a response involved access to untapped healthcare worker resources. The Louisville, Kentucky, response involved the use of a large volunteer workforce to supplement local public health employees in planning and implementing a large-scale drive-through vaccination event. The objective of this manuscript was to outline processes involved in training a mass immunization workforce and implementating a large-scale COVID-19 community vaccination.

Approach: Competency-based and standardized training was provided for every volunteer before working their shift. Volunteers worked …

Covid-19 Newsletter (Vol. 105), Center For Disaster Medicine, New York Medical College

COVID-19 Newsletter

No abstract provided.

Age-Associated Gut Dysbiosis, Marked By Loss Of Butyrogenic Potential, Correlates With Altered Plasma Tryptophan Metabolites In Older People Living With Hiv., Smita Ghare, Richa Singhal, Vaughn Bryant, Sabina Gautam, Chanakya Charan Tirumala, Praneet Kumar Srisailam, Andrea Reyes-Vega, Dushan Ghooray, Craig J. Mcclain, Kristi Hoffman, Joseph Petrosino, Kendall Bryant, Varand Govind, Ronald Cohen, Robert L. Cook, Shirish Barve

Faculty and Staff Scholarship

Background:

Imbalance in tryptophan (TRP) metabolism and its neuroactive metabolites, serotonin and kynurenine (KYN), is a known pathogenic mechanism underlying neurocognitive impairment. Gut microbiota plays an important role in TRP metabolism, and the production of these neuroactive molecules affects neurocognitive function. Although both HIV infection and normal aging independently induce gut dysbiosis and influence TRP metabolism, their interactive effects on compositional/functional changes in gut microbiota and consequent alterations in TRP metabolites remain largely undetermined.

Methods:

Older people living with HIV infection (PLWH, aged 50–70 years, n = 22) were enrolled in this cross-sectional pilot study. Metagenomic analysis of fecal microbiome …

Analysing The Trends In Breast Surgery Practice During Covid-19 Pandemic: A Comparative Study With The Pre-Covid Era, Lubna M. Vohra, Dua Jabeen, Nargis Khan, Azmeena Nizar, Anum Jamil, Tariq Siddiqui

Section of General Surgery

Background: The emergence of coronavirus disease 2019 (COVID-19) pandemic has crippled the healthcare systems all over the world. Cancer treatment is indispensable and disruption in its provision can lead to unanticipated consequences. No local data exists that has quantified the impact of COVID-19 pandemic on breast cancer surgery in a lower middle-income country (LMIC), therefore, the present retrospective comparative cohort study is directed to determine the trends in breast surgery operative volumes and its outcomes at our institution in Pakistan.
Materials and methods: Data was collected retrospectively from Pre-COVID-19 and COVID-19 era to determine impact of the current pandemic on …

Infection Prevention In Dentistry: Reaching Our “New Normal”, Karen K. Daw Mba, Cecm, Marie T. Fluent Dds

The Journal of the Michigan Dental Association

This article addresses the evolving landscape of infection prevention in dentistry amid the COVID-19 pandemic, emphasizing the dynamic nature of guidance and standards. It explores historical perspectives, including the transition from "wet finger dentistry" to universal precautions and standard precautions. The focus then shifts to the regulatory considerations and the relevance of transmission-based precautions in the context of COVID-19. The Hierarchy of Controls is discussed, encompassing elimination, substitution, engineering controls, administrative control, and personal protective equipment. Respiratory hygiene, personal protective equipment, and infection prevention practices are compared between the pre-COVID era and the current landscape, emphasizing the importance of adapting …

Snp Characteristics And Validation Success In Genome Wide Association Studies, Olga Y Gorlova, Xiangjun Xiao, Spiridon Tsavachidis, Christopher I Amos, Ivan P Gorlov

Faculty, Staff and Students Publications

Genome wide association studies (GWASs) have identified tens of thousands of single nucleotide polymorphisms (SNPs) associated with human diseases and characteristics. A significant fraction of GWAS findings can be false positives. The gold standard for true positives is an independent validation. The goal of this study was to identify SNP features associated with validation success. Summary statistics from the Catalog of Published GWASs were used in the analysis. Since our goal was an analysis of reproducibility, we focused on the diseases/phenotypes targeted by at least 10 GWASs. GWASs were arranged in discovery-validation pairs based on the time of publication, with …

Zoonotic Pathogens From Illegally Traded Wildlife Justify Adopting The One Health Perspective In Disease Response, Marianne Allison G. Lee, Vinyl Joseph S. Valeza, Jonathan Patrick H. Yan, Ronald Allan L. Cruz

Biology Faculty Publications

Recent studies have described a direct relationship between the illegal wildlife trade (IWT) and the prevalence of zoonotic pathogens in human populations. In the Philippines, the Philippine Integrated Disease Surveillance and Response (PIDSR) framework outlines the monitoring, response, and management of disease outbreaks, but needs to be updated in the wake of zoonoses from IWT. Here, we identified zoonotic pathogens that may be introduced to human populations through the IWT, pinpointed potential outbreak hotspots, and provided recommendations on how to improve the Philippines’ public health response while considering One Health. Using seizure data from the Biodiversity Management Bureau (DENR-BMB) covering …

Clinical Outcomes Of Immunomodulatory Therapies In The Management Of Covid-19: A Tertiary-Care Experience From Pakistan, Noreen Nasir, Salma Tajuddin, Sarah Khaskheli, Naveera Khan, Hammad Niamatullah, Nosheen Nasir

Section of Internal Medicine

The pharmacological management of COVID-19 has evolved significantly and various immunomodulatory agents have been repurposed. However, the clinical efficacy has been variable and a search for cure for COVID-19 continues. A retrospective cohort study was conducted on 916 patients hospitalized with polymerase chain reaction (PCR)-confirmed COVID-19 between February 2020 and October 2020 at a tertiary care academic medical center in Karachi, Pakistan. The median age was 57 years (interquartile range (IQR) 46–66 years). The most common medications administered were Methylprednisolone (65.83%), Azithromycin (50.66%), and Dexamethasone (46.6%). Majority of the patients (70%) had at least two or more medications used in …

Covid-19 Newsletter (Vol. 104), Center For Disaster Medicine, New York Medical College

COVID-19 Newsletter

No abstract provided.

The Emergence Of Covid-19 Associated Mucormycosis: A Review Of Cases From 18 Countries, Martin Hoenigl, Danila Seidel, Agostinho Carvalho, Shivaprakash M. Rudramurthy, Amir Arastehfar, Jean-Pierre Gangneux, Nosheen Nasir, Alexandro Bonifaz, Javier Araiza, Nikolai Klimko

Department of Medicine

Reports of COVID-19-associated mucormycosis have been increasing in frequency since early 2021, particularly among patients with uncontrolled diabetes. Patients with diabetes and hyperglycaemia often have an inflammatory state that could be potentiated by the activation of antiviral immunity to SARS-CoV2, which might favour secondary infections. In this Review, we analysed 80 published and unpublished cases of COVID-19-associated mucormycosis. Uncontrolled diabetes, as well as systemic corticosteroid treatment, were present in most patients with COVID-19-associated mucormycosis, and rhino-orbital cerebral mucormycosis was the most frequent disease. Mortality was high at 49%, which was particularly due to patients with pulmonary or disseminated mucormycosis or …

Common Genetic Variants Contribute To Risk Of Transposition Of The Great Arteries, Doris Škorić-Milosavljević, Rafik Tadros, Fernanda M Bosada, Federico Tessadori, Jan Hendrik Van Weerd, Odilia I Woudstra, Fleur V Y Tjong, Najim Lahrouchi, Fanny Bajolle, Heather J Cordell, A J Agopian, Gillian M Blue, Daniela Q C M Barge-Schaapveld, Marc Gewillig, Christoph Preuss, Elisabeth M Lodder, Phil Barnett, Aho Ilgun, Leander Beekman, Karel Van Duijvenboden, Regina Bokenkamp, Martina Müller-Nurasyid, Hubert W Vliegen, Thelma C Konings, Joost P Van Melle, Arie P J Van Dijk, Roland R J Van Kimmenade, Jolien W Roos-Hesselink, Gertjan T Sieswerda, Folkert Meijboom, Hashim Abdul-Khaliq, Felix Berger, Sven Dittrich, Marc-Phillip Hitz, Julia Moosmann, Frank-Thomas Riede, Stephan Schubert, Pilar Galan, Mark Lathrop, Hans M Munter, Ammar Al-Chalabi, Christopher E Shaw, Pamela J Shaw, Karen E Morrison, Jan H Veldink, Leonard H Van Den Berg, Sylvia Evans, Marcelo A Nobrega, Ivy Aneas, Milena Radivojkov-Blagojević, Thomas Meitinger, Erwin Oechslin, Tapas Mondal, Lynn Bergin, John F Smythe, Luis Altamirano-Diaz, Jane Lougheed, Berto J Bouma, Marie-A Chaix, Jennie Kline, Anne S Bassett, Gregor Andelfinger, Roel L F Van Der Palen, Patrice Bouvagnet, Sally-Ann B Clur, Jeroen Breckpot, Wilhelmina S Kerstjens-Frederikse, David S Winlaw, Ulrike M M Bauer, Seema Mital, Elizabeth Goldmuntz, Bernard Keavney, Damien Bonnet, Barbara J Mulder, Michael W T Tanck, Jeroen Bakkers, Vincent M Christoffels, Cornelis J Boogerd, Alex V Postma, Connie R Bezzina

Faculty, Staff and Student Publications

RATIONALE: Dextro-transposition of the great arteries (D-TGA) is a severe congenital heart defect which affects approximately 1 in 4,000 live births. While there are several reports of D-TGA patients with rare variants in individual genes, the majority of D-TGA cases remain genetically elusive. Familial recurrence patterns and the observation that most cases with D-TGA are sporadic suggest a polygenic inheritance for the disorder, yet this remains unexplored.

OBJECTIVE: We sought to study the role of common single nucleotide polymorphisms (SNPs) in risk for D-TGA.

METHODS AND RESULTS: We conducted a genome-wide association study in an international set of 1,237 patients …

A Fond Farewell, Dennis J. Baumgardner

Journal of Patient-Centered Research and Reviews

In this From the Editor introduction to Volume 9, Issue 1, the retiring editor-in-chief of Journal of Patient-Centered Research and Reviews recalls the history and initial aims of JPCRR, discusses the contents of articles in the current issue, and says good-bye.

Patient Satisfaction With Care Is Associated With Better Outcomes In Function And Pain 1 Year After Lumbar Spine Surgery, Björn Knutsson, Bakir Kadum, Ted Eneqvist, Sebastian Mukka, Arkan S. Sayed-Noor

Journal of Patient-Centered Research and Reviews

Purpose: There has been increasing interest in patient-reported experience measures (PREMs) to evaluate the patient experience and satisfaction with care. We conducted a prospective multicenter cohort study to determine any association between patients’ satisfaction of care and their outcomes 1 year after lumbar spine surgery.

Methods: Satisfaction with care was recorded through telephone interviews and a standardized questionnaire. Baseline data collection (300 patients) and 1-year follow-up (209 patients) were conducted through The Swedish National Register for Spine Surgery (Swespine). Exposures were patient experiences, health care professional (HCP) attitudes, shared decision-making, and overall satisfaction with care. Associations were evaluated using adjusted …

Differences In Health-Related Outcomes And Health Care Resource Utilization In Breast Cancer Survivors With And Without Type 2 Diabetes, Susan Storey, Zuoyi Zhang, Xiao Luo, Megan Metzger, Amrutha Ravali Jakka, Kun Huang, Diane Von Ah

Journal of Patient-Centered Research and Reviews

Purpose: Up to 74% of breast cancer survivors (BCS) have at least one preexisting comorbid condition, with diabetes (type 2) common. The purpose of this study was to examine differences in health-related outcomes (anemia, neutropenia, and infection) and utilization of health care resources (inpatient, outpatient, and emergency visits) in BCS with and without diabetes.

Methods: In this retrospective cohort study, data were leveraged from the electronic health records of a large health network linked to the Indiana State Cancer Registry. BCS diagnosed between January 2007 and December 2017 and who had received chemotherapy were included. Multivariable logistic regression and generalized …