Digital Commons Network^™

Systematic Method For Developing Tailored Strategies For Implementing Point-Of-Care Procalcitonin Testing To Guide Antibiotic Prescribing In Swiss Primary Care: A Protocol For A Mixed-Methods Participatory Approach, Aline Wolfensberger, Sophie Cl Gendolla, Jelena Dunaiceva, Catherine Plüss-Suard, Anne Niquille, Anna Nicolet, Joachim Marti, Byron J Powell, Rahel Naef, Noémie Boillat-Blanco, Yolanda Mueller, Lauren Clack

2020-Current year OA Pubs

INTRODUCTION: Antimicrobial resistance is a major global health threat, driven largely by the misuse and overuse of antibiotics. Point-of-care (POC) tests for inflammatory biomarkers like procalcitonin (PCT) have shown promise in reducing unnecessary antibiotic prescriptions. The hybrid type II ImpPro trial aims to evaluate the implementation and effectiveness of POC-PCT on antibiotic prescriptions by primary care physicians (PCP) in French-speaking Switzerland. Implementation is planned to include a multifaceted strategy delivered mainly, but not exclusively, via PCP quality circles. Currently, little guidance exists on how to best tailor the implementation strategies to a specific context. This study protocol describes the comprehensive …

Social Media As A Platform For Cancer Care Decision-Making Among Women: Internet Survey-Based Study On Trust, Engagement, And Preferences, Anna Rose Johnson, Grace Anne Longfellow, Clara N Lee, Benjamin Ormseth, Gary B Skolnick, Mary C Politi, Yonaira M Rivera, Terence Myckatyn

2020-Current year OA Pubs

BACKGROUND: Decision aids improve patient and clinician decision-making but are underused and often restricted to clinical settings.

OBJECTIVE: Given limited studies analyzing the feasibility of disseminating decision aids through social media, this study aimed to evaluate the acceptability, trust, and engagement of women with social media as a tool to deliver online decision aids for cancer treatment.

METHODS: To prepare for potential dissemination of a breast cancer decision aid via social media, a cross-sectional survey in February 2023 was conducted via Prime Panels, an online market research platform, of women aged 35-75 years in the United States. Demographics, health, cancer …

Crisis Communication About The Maui Wildfires On Tiktok: Content Analysis Of Engagement With Maui Wildfire-Related Posts Over 1 Year, Jim P Stimpson, Aditi Srivastava, Ketan Tamirisa, Joseph KeaweʻAimoku Kaholokula, Alexander N Ortega

2020-Current year OA Pubs

BACKGROUND: The August 2023 wildfire in the town of Lāhainā on the island of Maui in Hawai'i caused catastrophic damage, affecting thousands of residents, and killing 102 people. Social media platforms, particularly TikTok, have become essential tools for crisis communication during disasters, providing real-time crisis updates, mobilizing relief efforts, and addressing misinformation. Understanding how disaster-related content is disseminated and engaged with on these platforms can inform strategies for improving emergency communication and community resilience.

OBJECTIVE: Guided by Social-Mediated Crisis Communication theory, this study examined TikTok posts related to the Maui wildfires to assess content themes, public engagement, and the effectiveness …

Non-Invasive Assessment Of Vascular Damage Through Pulse Wave Velocity And Superb Microvascular Imaging In Pre-Dialysis Patients, Julia Martín-Vírgala, Beatriz Martín-Carro, Sara Fernández-Villabrille, Belinda Fernández-Mariño, Elena Astudillo-Cortés, Minerva Rodríguez-García, Carmen Díaz-Corte, José Luis Fernández-Martín, Carlos Gómez-Alonso, Adriana S Dusso, Cristina Alonso-Montes, Manuel Naves-Díaz, Sara Panizo, Natalia Carrillo-López

2020-Current year OA Pubs

No abstract provided.

Geographic Access To Cancer Care And Treatment And Outcomes Of Early-Stage Non-Small Cell Lung Cancer, Pratibha Shrestha, Ying Liu, James Struthers, Benjamin Kozower, Min Lian

2020-Current year OA Pubs

IMPORTANCE: Data on the impact of geographic access to cancer care on early-stage non-small cell lung cancer (NSCLC) treatment and outcomes are limited.

OBJECTIVE: To examine the associations of geographic access to cancer care with guideline-recommended treatment and outcomes in patients with early-stage NSCLC.

DESIGN, SETTING, AND PARTICIPANTS: This population-based cohort study included patients with early-stage NSCLC newly diagnosed between January 1, 2007, and December 31, 2015, followed up through December 31, 2016, and identified from the Surveillance, Epidemiology, and End Results dataset. Data analysis was performed from March to November 2024.

EXPOSURES: Geographic access to thoracic surgeons and radiation …

Sex Differences In Apolipoprotein E And Alzheimer Disease Pathology Across Ancestries, Xiaoyi Xu, Jiseon Kwon, Ruiqi Yan, Catherine Apio, Soomin Song, Gyujin Heo, Qijun Yang, Jigyasha Timsina, Menghan Liu, John Budde, John C Morris, Carlos Cruchaga, Yun Ju Sung, Et Al.

2020-Current year OA Pubs

IMPORTANCE: Age, sex, and apolipoprotein E (APOE) are the strongest risk factors for late-onset Alzheimer disease (AD). The role of APOE in AD varies with sex and ancestry. While the association of APOE with AD biomarkers also varies across sex and ancestry, no study has systematically investigated both sex-specific and ancestry differences of APOE on cerebrospinal fluid (CSF) biomarkers together, resulting in limited insights and generalizability.

OBJECTIVE: To systematically investigate the association of sex and APOE-ε4 with 3 core CSF biomarkers across ancestries.

DESIGN, SETTING, AND PARTICIPANTS: This cohort study examined 3 CSF biomarkers (amyloid β1-42 [Aβ42], phosphorylated tau 181 …

Racial Equity In Urine Drug Screening Policies In Labor And Delivery, Vahid Azimi, Cassandra Trammel, Lauren Nacke, Alexandra Rubin, Lori Stevenson, Brittaney Vaughn, Stephen M Roper, Mark A Zaydman, Ronald Jackups, Noor Riaz, Kim P Schamel, Jeannie C Kelly

2020-Current year OA Pubs

IMPORTANCE: Black pregnant patients are significantly more likely than their White counterparts to undergo peripartum urine drug screening (UDS) and subsequent reporting to child protective services (CPS).

OBJECTIVE: To evaluate the association of removing isolated cannabis use and limited prenatal care as order indications, combined with clinician-facing clinical decision support, with racial parity in peripartum UDS and CPS reporting.

DESIGN, SETTING, AND PARTICIPANTS: This quality improvement study assessed 9396 pregnant patients at a single tertiary care center in a Midwestern US urban metropolitan region who delivered before (June 1, 2021, to September 31, 2022) and after (October 1, 2022, to …

Environmental Hygiene Strategies To Combat Antimicrobial Resistance In Healthcare Settings, Mary Morgan Lee, Caroline A O'Neil, Lucy Vogt, Jennie H Kwon

2020-Current year OA Pubs

In this manuscript, we highlight current literature on environmental hygiene techniques to combat reservoirs of antibiotic resistant organisms in the healthcare environment. We discuss several topics for each strategy, including mechanism of action, assessment of effectiveness based on studies, cost, and real-world translatability. The techniques and topics summarized here are not inclusive of all available environmental hygiene techniques but highlight some of the more popular and investigated strategies. We focus on the following: Ultraviolet radiation, hydrogen peroxide vapor, copper-coated surfaces, phages, interventions involving sinks, and educational initiatives.

Assessment Of The Sensitivity Of A Smartphone App To Assist Patients In The Identification Of Stroke And Myocardial Infarction: Cross-Sectional Study, Amar Dhand, Rama Mangipudi, Anubodh S Varshney, Jonathan R Crowe, Andria L Ford, Nancy K Sweitzer, Min Shin, Samuel Tate, Haissam Haddad, Michael E Kelly, James Muller, Jay S Shavadia

2020-Current year OA Pubs

BACKGROUND: Most people do not recognize symptoms of neurological and cardiac emergencies in a timely manner. This leads to delays in hospital arrival and reduced access to therapies that can open arteries. We created a smartphone app to help patients and families evaluate if symptoms may be high risk for stroke or heart attack (myocardial infarction, MI). The ECHAS (Emergency Call for Heart Attack and Stroke) app guides users to assess their risk through evidence-based questions and a test of weakness in one arm by evaluating finger-tapping on the smartphone.

OBJECTIVE: This study is an initial step in the accuracy …

Prognostic, Biological, And Structural Implications Of Flt3-Jmd Point Mutations In Acute Myeloid Leukemia: An Analysis Of Alliance Studies, Nadeen Anabtawi, Geoffrey L Uy, Et Al.

2020-Current year OA Pubs

The FLT3 gene frequently undergoes mutations in acute myeloid leukemia (AML), with internal tandem duplications (ITD) and tyrosine kinase domain (TKD) point mutations (PMs) being most common. Recently, PMs and deletions in the FLT3 juxtamembrane domain (JMD) have been identified, but their biological and clinical significance remains poorly understood. We analyzed 1660 patients with de novo AML and found FLT3-JMD mutations, mostly PMs, in 2% of the patients. Patients with FLT3-JMD mutations had a higher relapse rate and shorter disease-free survival than those with FLT3-TKD, whereas their relapse rate, disease-free and overall survival were not significantly different from those of …

Emergence Of Infective Endocarditis Due To Serratia Spp.: Results Of A Multicenter Cohort, Leah Madeline Mccrary, Douglas Slain, Sunish Shah, Bobbi Jo Stoner, Ashley H Marx, Asher J Schranz

2020-Current year OA Pubs

BACKGROUND: Infective endocarditis due to

METHODS: This was a retrospective analysis of adults treated for S-IE at 4 academic health systems in different US states from 2015 to 2021. Multivariable logistic regression analyzed the association of inpatient mortality with procedural management and combination antibiotic treatment.

RESULTS: A total of 159 cases of S-IE were identified with a qualitative overall increase across the period, and a peak in 2019, although trends varied by site. Seventy-five were due to IDU, 57% involved a single left-sided valve, and inpatient mortality was 21%. In adjusted analyses, including 117 cases from 3 sites, lower inpatient …

Cardiotoxicity Following Thoracic Radiotherapy For Lung Cancer, Gerard M Walls, Carmen Bergom, Joshua D Mitchell, Stacey L Rentschler, Geoffrey D Hugo, Pamela P Samson, Clifford G Robinson

2020-Current year OA Pubs

Radiotherapy is the standard of care treatment for unresectable NSCLC, combined with concurrent chemotherapy and adjuvant immunotherapy. Despite technological advances in radiotherapy planning and delivery, the risk of damage to surrounding thoracic tissues remains high. Cardiac problems, including arrhythmia, heart failure and ischaemic events, occur in 20% of patients with lung cancer who undergo radiotherapy. As survival rates improve incrementally for this cohort, minimising the cardiovascular morbidity of RT is increasingly important. Problematically, the reporting of cardiac endpoints has been poor in thoracic radiotherapy clinical trials, and retrospective studies have been limited by the lack of standardisation of nomenclature and …

Zanubrutinib Versus Bendamustine And Rituximab In Patients With Treatment-Naïve Chronic Lymphocytic Leukemia/Small Lymphocytic Lymphoma: Median 5-Year Follow-Up Of Sequoia, Mazyar Shadman, Brad S Kahl, Et Al.

2020-Current year OA Pubs

No abstract provided.

Rates Of Hospitalization And Death Due To Covid-19 In Us Veterans With Sars-Cov-2 Infection In The Xbb-, Jn.1-, And Kp-Predominant Eras, Taeyoung Choi, Yan Xie, Ziyad Al-Aly

2020-Current year OA Pubs

Between September 2023 and October 2024, severe acute respiratory syndrome coronavirus 2 evolved through 3 variant-predominant eras: XBB, JN.1, and KP. Among 130 263 Department of Veterans Affairs patients with coronavirus disease 2019, hospitalization odds declined for JN.1 (0.81; 95% CI, 0.74-0.89) and KP (0.80; 95% CI, 0.72-0.88) compared with XBB, with consistently low in-hospital death rates across all eras.

Decreased Voluntary Alcohol Intake And Ventral Striatal Epigenetic And Transcriptional Remodeling In Male Acss2 Ko Mice, Gabor Egervari, Greg Donahue, Natalia A Quijano Cardé, Desi C Alexander, Connor Hogan, Jessica K Shaw, Erica M Periandri, Vanessa Fleites, Mariella De Biasi, Shelley L Berger

2020-Current year OA Pubs

Metabolic-epigenetic interactions are emerging as key pathways in regulating alcohol-related transcriptional changes in the brain. Recently, we have shown that this is mediated by the metabolic enzyme Acetyl-CoA synthetase 2 (Acss2), which is nuclear and chromatin-bound in neurons. Mice lacking ACSS2 fail to deposit alcohol-derived acetate onto histones in the brain and show no conditioned place preference for ethanol reward. Here, we further explored the role of this pathway during voluntary alcohol intake. We found that Acss2 KO mice consume significantly less alcohol in a model of binge drinking, an effect primarily driven by males. Genome-wide transcriptional profiling of 7 …

Effect Of Telemedicine Support For Intraoperative Anaesthesia Care On Postoperative Outcomes: The Tectonics Randomised Clinical Trial, Christopher R King, Bradley A Fritz, Stephen H Gregory, Thaddeus P Budelier, Arbi Ben Abdallah, Alex Kronzer, Daniel L Helsten, Brian Torres, Sherry L Mckinnon, Sandhya Tripathi, Mohamed Abdelhack, Shreya Goswami, Arianna Montes De Oca, Divya Mehta, Miguel A Valdez, Evangelos Karanikolas, Omokhaye Higo, Paul Kerby, Bernadette Henrichs, Troy S Wildes, Mary C Politi, Joanna Abraham, Michael S Avidan, Thomas Kannampallil

2020-Current year OA Pubs

BACKGROUND: Telemedicine may help improve care quality and patient outcomes. Telemedicine for intraoperative decision support has not been rigorously studied.

METHODS: This was a single-centre randomised clinical trial of unselected adult surgical patients. Patients were randomised to receive usual care or decision support from a telemedicine service, which provided real-time recommendations to intraoperative anaesthesia clinicians based on case reviews and physiological alerts. ORs were randomised 1:1. The co-primary outcomes were 30-day all-cause mortality, respiratory failure, acute kidney injury, and delirium in the intensive care unit, analysed by intention to treat.

RESULTS: Between July 1, 2019, and January 31, 2023, a …

Impact Of Mass Drug Administration With Ivermectin, Diethylcarbamazine, And Albendazole For Lymphatic Filariasis On Hookworm And Strongyloides Stercoralis Infections In Papua New Guinea, Jannet A. Tobon Ramos, Tobias Maure, Lenore Carias, Daphne Lew, Charles Goss, Anna Samuel, Livingstone Tavul, Peter U. Fischer, Gary J. Weil, Moses Laman, Leanne J. Robinson, William Pomat, Christopher L. King

2020-Current year OA Pubs

BACKGROUND: Persons with lymphatic filariasis (LF) are often co-infected with soil-transmitted helminths. A single co-administered dose of ivermectin/diethylcarbamazine/albendazole (IDA) is recommended by WHO for mass drug administration (MDA) for LF instead of diethylcarbamazine/albendazole (DA) in Papua New Guinea (PNG). We compared the effectiveness of a single round of MDA with IDA or DA on hookworm and strongyloidiasis in PNG.

METHODOLOGY/PRINCIPAL FINDINGS: This study was conducted as part of a cluster randomized trial of MDA with IDA versus DA for LF in individuals willing to provide stool and blood samples at baseline and 12 months after MDA. Participants from 23 villages …

Local Genetic Covariance Analysis With Lipid Traits Identifies Novel Loci For Early-Onset Alzheimer's Disease, Nicholas R. Ray, Joseph Bradley, Elanur Yilmaz, Caghan Kizil, Jiji T. Kurup, Eden R. Martin, Hans-Ulrich Klein, Brian W Kunkle, David A. Bennett, Philip L. De Jager, Alzheimer’S Disease Genetics Consortium, Gary W. Beecham, Carlos Cruchaga, Christiane Reitz

2020-Current year OA Pubs

The genetic component of early-onset Alzheimer disease (EOAD), accounting for ~10% of all Alzheimer's disease (AD) cases, is largely unexplained. Recent studies suggest that EOAD may be enriched for variants acting in the lipid pathway. The current study examines the shared genetic heritability between EOAD and the lipid pathway using genome-wide multi-trait genetic covariance analyses. Summary statistics were obtained from the GWAS meta-analyses of EOAD by the Alzheimer's Disease Genetics Consortium (n=19,668) and five blood lipid traits by the Global Lipids Genetics Consortium (n=1,320,016). The significant results were compared between the EOAD and lipids GWAS and genetic covariance analyses were …

Loncastuximab In High-Risk And Heavily Pretreated Relapsed/Refractory Diffuse Large B-Cell Lymphoma: A Real-World Analysis From 21 Us Centers, Viktoriya Zelikson, Behzad Amoozgar, Brad Kahl, Et Al.

2020-Current year OA Pubs

Outcomes in patients with relapsed/refractory (R/R) diffuse large B-cell lymphoma (DLBCL) are poor. Loncastuximab- teserine (Lonca) is an antibody-drug conjugate which was approved by the Food and Drug Administration for the treatment of patients with R/R DLBCL who have received at least two prior lines of therapy, based on the results of the LOTIS-2 trial. However, there are limited data regarding its efficacy in the real-world setting. This retrospective study included 21 US centers and evaluated outcomes of patients with R/R DLBCL treated with Lonca. Our analysis comprises 187 patients with notably higher-risk baseline features compared to those of the …

Reward Neurocircuitry Predicts Longitudinal Changes In Alcohol Use Following Trauma Exposure, Cecilia A Hinojosa, Stacey L House, Et Al.

2020-Current year OA Pubs

BACKGROUND: Trauma is a risk factor for developing maladaptive alcohol use. Preclinical research has shown that stress alters the processing of midbrain and striatal reward and incentive signals. However, little research has been conducted on alterations in reward-related neurocircuitry posttrauma in humans. Neuroimaging markers may be particularly useful because they can provide insight into the mechanisms that may make an individual vulnerable to developing trauma-related psychopathologies. In this study, we aimed to identify reward-related neural correlates associated with changes in alcohol use after trauma exposure.

METHODS: Participants were recruited from U.S. emergency departments for the AURORA study (n = 286; …

Parameterizing Toxic Stress In Early Childhood: Maternal Depression, Maltreatment, And Hpa-Axis Variation In A Pilot Intervention Study, Rachael E Wagner, Melissa Jonson-Reid, Brett Drake, Patricia L Kohl, Laura Pons, Yi Zhang, Robert T Fitzgerald, Mark L Laudenslager, John N Constantino

2020-Current year OA Pubs

Adverse experiences superseding a child's capacity to sustain regulation of emotion and adaptive function are theorized to constitute "toxic stressors" when they induce a deleterious biological response within an individual. We ascertained presumptive parameters of toxic stress among 164 low-income infants and toddlers (ages 4-48 months) from 132 families enrolled in Early Head Start (EHS). We randomized a subset of these families into a pilot intervention arm of parenting education (the Incredible Years, TIY), which supplemented the EHS curriculum. Official report child abuse and neglect (CAN) and child behavior were serially ascertained over the course of the study. We observed …

Bi-Allelic Lamp3 Variants In Childhood Interstitial Lung Disease: A Surfactant-Related Disease, Camille Louvrier, F Sessions Cole, Jennifer A Wambach, Daniel J Wegner, Et Al.

2020-Current year OA Pubs

BACKGROUND: LAMP3 encodes a lysosomal membrane protein associated with lamellar bodies and has recently been proposed as a candidate gene for childhood interstitial lung diseases (chILD). Here, we identified two LAMP3 variants in a proband with chILD and performed functional validation of these variants as well as the previously reported variants to demonstrate the role of LAMP3 in pathology.

METHODS: LAMP3 variants were identified by exome sequencing. Ex vivo studies included mRNA analysis from nasal brushing and lung tissue and immunohistochemistry from lung biopsy. In vitro functional analyses in the A549 cell line included immunofluorescence staining and expression analysis of …

Comparison Of 2 Thromboelastography Methods Using Patient And Control Samples, Robert Frick, Brittany Washburn, Dennis Plocher, Jonathan K Zoller, Jason Gillihan, Michael Dombrowski, Charles Eby, Christopher W Farnsworth

2020-Current year OA Pubs

BACKGROUND: Viscoelastic testing at point-of-care is associated with reduced blood loss and blood product transfusions. The ROTEM (Werfen) sigma is a cartridge-based system that may facilitate point-of-care use, but limited studies exist comparing the sigma with the predicated ROTEM delta.

OBJECTIVES: We compared the performance of the ROTEM delta with that of the sigma.

METHODS: Citrated blood was collected from 20 healthy donors and patients during liver transplants (

RESULTS: The coefficient of variation was < 10% for all assays/parameters except for the thromboelastometry with extrinsic activation (EXTEM) clotting time (10.3%) and EXTEM amplitude (A)5 (10.2%). Reference intervals for the delta and sigma were comparable to manufacturer claims. The Pearson r comparing the delta and sigma exceeded .85 for all parameters/assays except for thromboelastometry with cytochalasin D-mediated platelet inhibition (FIBTEM) A10 (.77; 95% CI, .66-.86), FIBTEM A20 (.78; 95% CI, .65-.87), and thromboelastometry with heparinase clotting time (.77; 95% CI, .61-.87). No difference was observed in extrapolated thresholds from the delta-guided algorithm. However, extrapolated sigma A5 parameters for EXTEM were 5 mm lower, and for FIBTEM were 1 mm lower than delta A10 parameters.

CONCLUSION: The ROTEM delta and sigma devices had comparable performance. A negative bias was observed in the FIBTEM assay with lower extrapolated clinical decision points …

Patient-Reported Social Risk Factor Screening Among Rheumatology Outpatients, Alissa Chandler, Mohammed Hamid, Ziqiao Jiao, Kelsey Hulcher, Isha Sharma, Patrice Odom, Andrew Robinson, Sara Kellahan, Maura Kepper, Colleen Dostal, Senada Fenelon, Seth Eisen, Daphne Lew, Alfred H J Kim

2020-Current year OA Pubs

OBJECTIVE: The purpose of this study was to pilot test a patient-reported social risk factor (SRF) screening tool among rheumatology outpatients and to examine the distribution of SRFs in this population.

METHODS: A SRF screening tool was completed electronically by patients. Patients were screened for four core SRF domains (financial strain, housing instability, food insecurity, and transportation needs) and four supplemental SRF domains (physical inactivity, social isolation, stress, and depression). Data from the electronic health record were extracted for patients with at least one domain screened who were seen by participating rheumatology providers between January 1 and October 31, 2023. …

"Inpatient Pharmacological Thromboprophylaxis In The Antepartum Period: An Argument For Universal Thromboprophylaxis", Julia Burd, Amanda Zofkie

2020-Current year OA Pubs

Venous thromboembolism (VTE), a largely preventable condition, accounts for almost 15% of maternal mortalities. The physiologic changes of pregnancy, including quantitative changes in coagulation factors and compression of vasculature by the gravid uterus, cause an increase in risk of VTE, including deep vein thromboembolism (DVT), pulmonary embolism, and stroke (CVA). Long term antepartum admission for preeclampsia, preterm prelabor rupture of membranes (PPROM) or other high-risk pregnancy needs present additional risk factors for VTE due to the patient's medical condition and their inpatient status. Given the near-universal support for anticoagulation in patients with a history of venous thromboembolism or high-risk thrombophilia, …

Visual Field Progression In The Ocular Hypertension Treatment Study, Mae O Gordon, Dale K Heuer, Eve J Higginbotham, Richard K Parrish, Lei Liu, James D Brandt, Julia B Huecker, J Phillip Miller, Chamila Perera, Chris Xie, John L Keltner, Chris A Johnson, Stuart K Gardiner, Jeffrey M Liebmann, Michael A Kass

2020-Current year OA Pubs

PURPOSE: To determine the rate of visual field (VF) loss before and after the diagnosis of primary open angle glaucoma (POAG) in the Ocular Hypertension Treatment Study (OHTS).

DESIGN: Prespecified analyses of data collected prospectively in a clinical trial with extended follow-up.

SETTING AND PARTICIPANTS: Participants who developed POAG during OHTS 1 and 2 (February 1994 to December 2008) constitute an inception cohort. Follow-up data were collected in OHTS 3 (January 2016-April 2019). Analyses were performed from July 2021 to August 2022.

INTERVENTION: In OHTS 1 and 2, visual field (VF) tests were performed every 6 months and stereoscopic optic …

The Essential Aortic Valve-In-Valve Transcatheter Aortic Valve Replacement Update: Procedural Strategies And Current Clinical Results, Matheus Simonato, José Honório Palma, Zaid Alirhayim, Raviteja Guddeti, Tsuyoshi Kaneko, Santiago Garcia

2020-Current year OA Pubs

Valve-in-valve transcatheter aortic valve replacement is an established alternative to conventional surgical reoperation for failed aortic bioprosthetic valves. The technique has undergone significant refinements in recent years, aiming to tackle pain points of the procedure such as subpar hemodynamics and coronary obstruction. In this state-of-the-art review, we aim to discuss these refinements, including novel surgical valves, transcatheter heart valve positioning, bioprosthetic valve fracture, and prevention of coronary obstruction, among others. We also summarize key updates on clinical trial data and contemporary outcomes of valve-in-valve transcatheter aortic valve replacement.

Integrative Analysis Of The 3d Genome And Epigenome In Mouse Embryonic Tissues, Miao Yu, Yang E Li, Et Al.

2020-Current year OA Pubs

While a rich set of putative cis-regulatory sequences involved in mouse fetal development have been annotated recently on the basis of chromatin accessibility and histone modification patterns, delineating their role in developmentally regulated gene expression continues to be challenging. To fill this gap, here we mapped chromatin contacts between gene promoters and distal sequences across the genome in seven mouse fetal tissues and across six developmental stages of the forebrain. We identified 248,620 long-range chromatin interactions centered at 14,138 protein-coding genes and characterized their tissue-to-tissue variations and developmental dynamics. Integrative analysis of the interactome with previous epigenome and transcriptome datasets …

Genomics Of Pediatric Cardiomyopathy, Teresa M Lee, Stephanie M Ware, Alicia M Kamsheh, Surbhi Bhatnagar, Mohammed Absi, Elyse Miller, Enkhsaikhan Purevjav, Kaitlin A Ryan, Jeffrey A Towbin, Steven E Lipshultz

2020-Current year OA Pubs

Cardiomyopathy in children is a leading cause of heart failure and cardiac transplantation. Disease-associated genetic variants play a significant role in the development of the different subtypes of disease. Genetic testing is increasingly being recognized as the standard of care for diagnosing this heterogeneous group of disorders, guiding management, providing prognostic information, and facilitating family-based risk stratification. The increase in clinical and research genetic testing within the field has led to new insights into this group of disorders. Mutations in genes encoding sarcomere, cytoskeletal, Z-disk, and sarcolemma proteins appear to play a major role in causing the overlapping clinical phenotypes …

Identification Of A New Coq4 Spliceogenic Variant Causing Severe Primary Coenzyme Q Deficiency, María Alcázar-Fabra, Abigail K Bartlett, David J Pagliarini, Et Al.

2020-Current year OA Pubs

BACKGROUND AND AIMS: Primary Coenzyme Q (CoQ) deficiency caused by

MATERIALS AND METHODS: Both fibroblasts from a proband with

RESULTS: Here, we report the case of a subject harboring a new variant of the

CONCLUSION: Our results highlight the importance of expanding the genetic analysis beyond the coding sequence to reduce the misdiagnosis of primary CoQ deficiency patients.