Digital Commons Network^™

Characteristics And Contributing Factors Of Diagnostic Error In Surgery: Analysis Of Closed Medico-Legal Cases And Complaints In Canada, Anna Macintyre, Richard Mimeault, Liisa Honey, Cynthia Dunn, Gary Garber, Hardeep Singh

Faculty, Staff and Students Publications

Background: Diagnostic errors lead to patient harm; however, most research has been conducted in nonsurgical disciplines. We sought to characterize diagnostic error in the pre-, intra-, and postoperative surgical phases, describe their contributing factors, and quantify their impact related to patient harm.

Methods: We performed a retrospective analysis of closed medico-legal cases and complaints using a database representing more than 95% of all Canadian physicians. We included cases if they involved a legal action or complaint that closed between 2014 and 2018 and involved a diagnostic error assigned by peer expert review to a surgeon.

Results: We identified 387 surgical …

Early Immune Factors Associated With The Development Of Post-Acute Sequelae Of Sars-Cov-2 Infection In Hospitalized And Non-Hospitalized Individuals, Chen Chen, Katherine A Drake, Gary Tong, Vanessa K Ridaura, Howard C Zisser, William A Conrad, Natalia Hudson, Jared Allen, Christopher Welberry, Celine Parsy-Kowalska, Isabel Macdonald, Victor F Tapson, James N Moy, Christopher R Defilippi, Ivan O Rosas, Mujeeb Basit, Jerry A Krishnan, Sairam Parthasarathy, Bellur S Prabhakar, Mirella Salvatore, Charles C Kim

Faculty, Staff and Students Publications

BACKGROUND: Infection by severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) can lead to post-acute sequelae of SARS-CoV-2 (PASC) that can persist for weeks to years following initial viral infection. Clinical manifestations of PASC are heterogeneous and often involve multiple organs. While many hypotheses have been made on the mechanisms of PASC and its associated symptoms, the acute biological drivers of PASC are still unknown.

METHODS: We enrolled 494 patients with COVID-19 at their initial presentation to a hospital or clinic and followed them longitudinally to determine their development of PASC. From 341 patients, we conducted multi-omic profiling on peripheral blood …

Bi-Allelic Variants In Cep295 Cause Seckel-Like Syndrome Presenting With Primary Microcephaly, Developmental Delay, Intellectual Disability, Short Stature, Craniofacial And Digital Abnormalities, Jingqi Lin, Lama Alabdi, Mir Reza Bekheirnia, Guoqiang Li, Yoel Gofin, Nasim Bekheirnia, Eissa Faqeih, Lina Chen, Guoying Chang, Jie Tang, Ruen Yao, Tingting Yu, Xiumin Wang, Wei Fu, Qihua Fu, Yiping Shen, Fowzan S Alkuraya, Keren Machol, Jian Wang

Faculty, Staff and Students Publications

BACKGROUND: Pathogenic variants in the centrosome protein (CEP) family have been implicated in primary microcephaly, Seckel syndrome, and classical ciliopathies. However, most CEP genes remain unlinked to specific Mendelian genetic diseases in humans. We sought to explore the roles of CEP295 in human pathology.

METHODS: Whole-exome sequencing was performed to screen for pathogenic variants in patients with severe microcephaly. Patient-derived fibroblasts and CEP295-depleted U2OS and RPE1 cells were used to clarify the underlying pathomechanisms, including centriole/centrosome development, cell cycle and proliferation changes, and ciliogenesis. Complementary experiments using CEP295 mRNA were performed to determine the pathogenicity of the identified missense variant. …

Pretreatment Characteristics Associated With Symptom Reduction During Group Cognitive Processing Therapy Versus Exposure Therapy For Ptsd: An Exploratory Study Of Veterans, Lia J Smith, Laura Priorello, Kelly Lee, Matthew Estey, Mary R Newsome, M Wright Williams

Faculty, Staff and Students Publications

Exposure and cognitive-based therapies are both effective for PTSD, but knowledge of which intervention is best for which patient is lacking. This lack of knowledge is particularly noticeable for group treatments, as no study has examined whether responses to different group therapies are associated with different pretreatment characteristics. Here, we explored whether pretreatment levels of three types of psychological characteristics-PTSD symptom clusters, posttraumatic cognitions, and emotion regulation difficulties-were associated with symptom reduction during group-delivered cognitive versus exposure-based PTSD treatment. Participants were Veterans with PTSD drawn from two previous clinical trials: one of group CPT (GCPT;

Increased Resolvin E1 Production By Peripheral Blood Mononuclear Cells In Periodontitis Patients: Pilot Study

Faculty, Staff and Student Publications

This study quantified the production of the pro-resolving agent Resolvin E1 by peripheral blood mononuclear cells (PBMC) from 20 systemically healthy volunteers with and without periodontitis after stimulation with lipopolysaccharide (LPS) from Porphyromonas gingivalis (Pg). Ten periodontitis patients and 10 healthy volunteers (30-50 years old), matched by age and sex, were recruited. Peripheral blood mononuclear cells were isolated and stimulated in culture plates for 24 hours with Pg LPS. Resolvin E1 levels were measured in the supernatants by enzyme-linked immunosorbent assay. Significantly higher production of Resolvin E1 was observed in both groups when stimulated with LPS compared to baseline levels …

Self-Perception Of Mental Health, Covid-19 And Associated Sociodemographic-Contextual Factors In Latin America, Juliana Mejía-Grueso, Rodrigo Reis, Adriano Akira Ferreira Hino, Fernando López, Deborah Salvo, Andrea Ramírez-Varela

Faculty, Staff and Student Publications

This study aimed to estimate the prevalence of alterations in self-perceived mental health during the COVID-19 pandemic and their associated factors in four Latin American countries. This is a cross-sectional study based on data collected from adults in 2021 through the Collaborative Response COVID-19 Survey by the MacDonnell Academy at Washington University in St. Louis (United States). The sample was composed of 8,125 individuals from Brazil, Colombia, Mexico, and Chile. A generalized linear model for a binary outcome variable with a logistic link and fixed country effects was used. There were 2,336 (28.75%) individuals who considered having suffered alterations in …

Prozone Masks Elevated Sars-Cov-2 Antibody Level Measurements, Michael D Swartz

Faculty, Staff and Student Publications

We report a prozone effect in measurement of SARS-CoV-2 spike protein antibody levels from an antibody surveillance program. Briefly, the prozone effect occurs in immunoassays when excessively high antibody concentration disrupts the immune complex formation, resulting in a spuriously low reported result. Following participant inquiries, we observed anomalously low measurement of SARS-CoV-2 spike protein antibody levels using the Roche Elecsys® Anti-SARS-CoV-2 S immunoassay from participants in the Texas Coronavirus Antibody Research survey (Texas CARES), an ongoing prospective, longitudinal antibody surveillance program. In July, 2022, samples were collected from ten participants with anomalously low results for serial dilution studies, and a …

Baseline Characteristics Of Sars-Cov-2 Vaccine Non-Responders In A Large Population-Based Sample, Michael D Swartz, Cesar L Pinzon-Gomez, Sarah E Messiah, Melissa Valerio-Shewmaker, Harold W Kohl, Jessica Ross, David Lakey, Jennifer A Shuford, Stephen J Pont, Eric Boerwinkle

Faculty, Staff and Student Publications

INTRODUCTION: Studies indicate that individuals with chronic conditions and specific baseline characteristics may not mount a robust humoral antibody response to SARS-CoV-2 vaccines. In this paper, we used data from the Texas Coronavirus Antibody REsponse Survey (Texas CARES), a longitudinal state-wide seroprevalence program that has enrolled more than 90,000 participants, to evaluate the role of chronic diseases as the potential risk factors of non-response to SARS-CoV-2 vaccines in a large epidemiologic cohort.

METHODS: A participant needed to complete an online survey and a blood draw to test for SARS-CoV-2 circulating plasma antibodies at four-time points spaced at least three months …

Variant Of The Lactase Lct Gene Explains Association Between Milk Intake And Incident Type 2 Diabetes, Jiaqian Xing, Zheng Wang, Gang Hu, Jun Li, Elizabeth Selvin, Casey M Rebholz, Tao Wang, Carmen R Isasi, Bing Yu, Rob Knight, Eric Boerwinkle, Robert D Burk, Robert C Kaplan, Qibin Qi

Faculty, Staff and Student Publications

Cow's milk is frequently included in the human diet, but the relationship between milk intake and type 2 diabetes (T2D) remains controversial. Here, using data from the Hispanic Community Health Study/Study of Latinos, we show that in both sexes, higher milk intake is associated with lower risk of T2D in lactase non-persistent (LNP) individuals (determined by a variant of the lactase LCT gene, single nucleotide polymorphism rs4988235 ) but not in lactase persistent individuals. We validate this finding in the UK Biobank. Further analyses reveal that among LNP individuals, higher milk intake is associated with alterations in gut microbiota (for …

The Relationship Of Neighborhood Disadvantage, Biological Aging, And Psychosocial Risk And Resilience Factors In Heart Failure Incidence Among Black Persons: A Moderated Mediation Analysis, Bing Yu

Faculty, Staff and Student Publications

Objectives: Deprived living environments contribute to greater heart failure (HF) risk among non-Hispanic Black persons, who disproportionately occupy disadvantaged neighborhoods. The mechanisms for these effects are not fully explicated, partially attributable to an insufficient understanding of the individual factors that contribute additional risk or resilience to the impact of neighborhood disadvantage on health. The objective of this study was, therefore, to clarify the complex pathways over which such exposures act to facilitate more targeted, effective interventions. Given the evidence for a mediating role of biological age and a moderating role of individual psychosocial characteristics in the neighborhood disadvantage-HF link, we …

A Randomized Controlled Study Of Auricular Point Acupressure To Manage Chemotherapy-Induced Neuropathy: Study Protocol, Chitchanok Benjasirisan, Jennifer Kawi, Hulin Wu, Hongyu Wang, Rupsikha Bora, Johannes Thrul, Constance M Johnson, Thomas J Smith

Faculty, Staff and Student Publications

Objective: Chemotherapy-induced neuropathy (CIN) significantly impacts cancer patients, leading to functional disability, diminished quality of life, and increased healthcare costs amid the ongoing opioid crisis. Auricular point acupressure (APA), a non-invasive and non-pharmacological alternative, has shown potential for alleviating the pain, numbness, and tingling associated with CIN. This study aims to assess the efficacy of APA for CIN symptoms and physical function and to examine the mechanisms underlying APA's effects on CIN.

Methods: This is a three-arm randomized controlled clinical trial protocol. Patients aged 18 and older who are experiencing CIN are randomly assigned to one of the three groups: …

Trio Rvemvs: A Bayesian Framework For Rare Variant Association Analysis With Expectation-Maximization Variable Selection Using Family Trio Data, Chenguang Zhang

Faculty, Staff and Student Publications

It is commonly reported that rare variants may be more functionally related to complex diseases than common variants. However, individual rare variant association tests remain challenging due to low minor allele frequency in the available samples. This paper proposes an expectation maximization variable selection (EMVS) method to simultaneously detect common and rare variants at the individual variant level using family trio data. TRIO_RVEMVS was assessed in both large (1500 families) and small (350 families) datasets based on simulation. The performance of TRIO_RVEMVS was compared with gene-level kernel and burden association tests that use pedigree data (PedGene) and rare-variant extensions of …

Acceptability Of Anal Human Papillomavirus Home Self-Sampling And Clinician Sampling Among Sexual And Gender Minority Individuals In Milwaukee, Wisconsin: The Prevent Anal Cancer Self-Swab Study, Maria E Fernandez, Jennifer S Smith, Alan G Nyitray

Faculty, Staff and Student Publications

Purpose: Anal cancer has disproportionately high incidence among sexual minority men. We compared acceptability of home versus clinic human papillomavirus (HPV) anal swabbing.

Methods: The Prevent Anal Cancer Self-Swab Study recruited sexual and gender minority individuals in Milwaukee, Wisconsin. Eligible participants were randomized to a home or clinic arm. Home participants received a mailed anal HPV self-sampling kit. Clinic participants attended a clinic appointment where a clinician collected an anal HPV swab. We examined acceptability (overall thoughts, comfort with method, pain, and future willingness to swab) of home versus clinic swabbing using postswab survey responses.

Results: A total of 191 …

Social Determinants Of Health Predict Readmission Following Covid-19 Hospitalization: A Health Information Exchange-Based Retrospective Cohort Study, Tru Cao, Eric Boerwinkle

Faculty, Staff and Student Publications

INTRODUCTION: Since February 2020, over 104 million people in the United States have been diagnosed with SARS-CoV-2 infection, or COVID-19, with over 8.5 million reported in the state of Texas. This study analyzed social determinants of health as predictors for readmission among COVID-19 patients in Southeast Texas, United States.

METHODS: A retrospective cohort study was conducted investigating demographic and clinical risk factors for 30, 60, and 90-day readmission outcomes among adult patients with a COVID-19-associated inpatient hospitalization encounter within a regional health information exchange between February 1, 2020, to December 1, 2022.

RESULTS AND DISCUSSION: In this cohort of 91,007 …

The Use Of Large Language Models To Accelerate Literature Review Towards Digital Health Equity And Inclusiveness

Faculty, Staff and Student Publications

Digital health technologies (DHTs) have revolutionized clinical trials, offering unprecedented opportunities to streamline processes, enhance patient engagement, and improve data quality. Growing technology device and broadband access are contributing to the increasing number of DHT-enabled trials. Ideally, DHTs have the potential to make clinical research more inclusive and diverse. However, while the variety in digital technologies and implementations present a strong display of healthcare innovation, major challenges arise concerning DHT generalizability and translation into real-world medical practice. In this study, we report our efforts in accelerating the literature review process related to the use of DHTs in randomized controlled trials …

Federated Multiple Imputation For Variables That Are Missing Not At Random In Distributed Electronic Health Records

Faculty, Staff and Student Publications

Large electronic health records (EHR) have been widely implemented and are available for research activities. The magnitude of such databases often requires storage and computing infrastructure that are distributed at different sites. Restrictions on data-sharing due to privacy concerns have been another driving force behind the development of a large class of distributed and/or federated machine learning methods. While missing data problem is also present in distributed EHRs, albeit potentially more complex, distributed multiple imputation (MI) methods have not received as much attention. An important advantage of distributed MI, as well as distributed analysis, is that it allows researchers to …

Large Language Models Struggle In Token-Level Clinical Named Entity Recognition, Liwei Wang, Hongfang Liu

Faculty, Staff and Student Publications

Large Language Models (LLMs) have revolutionized various sectors, including healthcare where they are employed in diverse applications. Their utility is particularly significant in the context of rare diseases, where data scarcity, complexity, and specificity pose considerable challenges. In the clinical domain, Named Entity Recognition (NER) stands out as an essential task and it plays a crucial role in extracting relevant information from clinical texts. Despite the promise of LLMs, current research mostly concentrates on document-level NER, identifying entities in a more general context across entire documents, without extracting their precise location. Additionally, efforts have been directed towards adapting ChatGPTfor token-level …

Facilitating Clinical Information Extraction With Synthetic Data And Ontology Using Large Language Models, Kirk Roberts, Hua Xu

Faculty, Staff and Student Publications

The rapid growth of unstructured clinical text in electronic health records necessitates robust information extraction systems, yet their development is hindered by the scarcity of high-quality annotated data. This study explores the potential of large language models to generate synthetic data for clinical named entity recognition and examines its impact on model performance. We propose a novel framework that integrates self-verified synthetic data generation with domain-specific semantic mapping using SNOMED-CT. By leveraging GPT-4o-mini for synthetic data creation and refining its quality through iterative verification and anomaly detection, we systematically evaluate the influence of synthetic data quality and quantity on fine-tuning …

The Global Alpl Gene Variant Classification Project: Dedicated To Deciphering Variants., Mariam R. Farman, Catherine Rehder, Theodora Malli, Cheryl Rockman-Greenberg, Kathryn Dahir, Gabriel Ángel Martos-Moreno, Agnès Linglart, Keiichi Ozono, Lothar Seefried, Guillermo Del Angel, Gerald Webersinke, Francesca Barbazza, Lisa K. John, Sewmi M A Delana Mudiyanselage, Florian Högler, Erica Burner Nading, Erin Huggins, Eric T. Rush, Ahmed El-Gazzar, Priya S. Kishnani, Wolfgang Högler

Manuscripts, Articles, Book Chapters and Other Papers

BACKGROUND: Hypophosphatasia (HPP) is an inherited multisystem disorder predominantly affecting the mineralization of bones and teeth. HPP is caused by pathogenic variants in ALPL, which encodes tissue non-specific alkaline phosphatase (TNSALP). Variants of uncertain significance (VUS) cause diagnostic delay and uncertainty amongst patients and health care providers.

RESULTS: The ALPL gene variant database (https://alplmutationdatabase.jku.at/) is an open-access archive for interpretation of the clinical significance of variants reported in ALPL. The database contains coding and non-coding variants, including single nucleotide variants, insertions/deletions and structural variants affecting coding or non-coding sequences of ALPL. Each variant in the database is displayed with details …

Statistical Analysis Of Single-Cell Protein Data., Brooke L. Fridley, Simon Vandekar, Inna Chervoneva, Julia Wrobel, Siyuan Ma

Manuscripts, Articles, Book Chapters and Other Papers

Immune modulation is considered a hallmark of cancer initiation and progression, with immune cell density being consistently associated with clinical outcomes of individuals with cancer. Multiplex immunofluorescence (mIF) microscopy combined with automated image analysis is a novel and increasingly used technique that allows for the assessment and visualization of the tumor microenvironment (TME). Recently, application of this new technology to tissue microarrays (TMAs) or whole tissue sections from large cancer studies has been used to characterize different cell populations in the TME with enhanced reproducibility and accuracy. Generally, mIF data has been used to examine the presence and abundance of …

Adjusting For Covariates Representing Potential Confounders, Mediators, Or Competing Predictors In The Presence Of Measurement Error: Dispelling A Potential Misapprehension And Insights For Optimal Study Design With Nutritional Epidemiology Examples, Roger S Zoh, Diana M Thomas, Carmen D Tekwe, Xiaoxin Yu, Colby J Vorland, Nikhil V Dhurandhar, David M Klurfeld, David B Allison

Children’s Nutrition Research Center Staff Publications

Background: Variables such as dietary intake are measured with error yet frequently used in observational epidemiology. Although this limitation is sometimes noted, these variables are still often modeled as covariates without formal correction or sincere dialogue about measurement unreliability potentially weakening the validity of statistical conclusions. Further, larger sample sizes increase power (bias) to detect spurious correlations. Counterintuitively, recent work suggested a non-monotonic relationship between confounder unreliability and how much controlling for the confounder reduces (or induces) bias when testing for an exposure-outcome association. If true, such non-monotonicity would be especially concerning for applications such as nutrition, where measurement reliability …

Updated Dpyd Hapb3 Haplotype Structure And Implications For Pharmacogenomic Testing., Amy J. Turner, Cyrine E. Haidar, Wenjian Yang, Erin C. Boone, Steven M. Offer, Philip E. Empey, Andrew Haddad, Saba Tahir, Gunter Scharer, Ulrich Broeckel, Andrea Gaedigk

Manuscripts, Articles, Book Chapters and Other Papers

The DPYD gene encodes dihydropyrimidine dehydrogenase, the rate-limiting enzyme for the metabolism of fluoropyrimidines 5-fluorouracil and capecitabine. Genetic variants in DPYD have been associated with altered enzyme activity, therefore accurate detection and interpretation is critical to predict metabolizer status for individualized fluoropyrimidine therapy. The most commonly observed deleterious variation is the causal variant linked to the previously described HapB3 haplotype, c.1129-5923C>G (rs75017182) in intron 10, which introduces a cryptic splice site. A benign synonymous variant in exon 11, c.1236G>A (rs56038477) is also linked to HapB3 and is commonly used for testing. Previously, these single-nucleotide polymorphisms (SNPs) have been …

Novel Spirocyclic Dimer, Spid3, Targets Chronic Lymphocytic Leukemia Survival Pathways With Potent Preclinical Effects, Alexandria Eiken, Audrey L. Smith, Sydney A. Skupa, Elizabeth Schmitz, Sandeep Rana, Sarbjit Singh, Siddhartha Kumar, Jayapal Reddy Mallareddy, Aguirre A. De Cubas, Akshay Krishna, Achyuth Kalluchi, M. Jordan Rowley, Christopher R. D'Angelo, Matthew A. Lunning, Gregory Bociek, Julie M. Vose, Amarnath Natarajan, Dalia El-Gamal

Journal Articles: Oncology and Hematology

Chronic lymphocytic leukemia (CLL) cell survival and growth is fueled by the induction of B-cell receptor (BCR) signaling within the tumor microenvironment (TME) driving activation of NFκB signaling and the unfolded protein response (UPR). Malignant cells have higher basal levels of UPR posing a unique therapeutic window to combat CLL cell growth using pharmacologic agents that induce accumulation of misfolded proteins. Frontline CLL therapeutics that directly target BCR signaling such as Bruton tyrosine kinase (BTK) inhibitors (e.g., ibrutinib) have enhanced patient survival. However, resistance mechanisms wherein tumor cells bypass BTK inhibition through acquired BTK mutations, and/or activation of alternative survival …

Lessons Learned From The Moment Study On How To Recruit And Retain A Target Population Online, Across Borders, And With Automated Remote Data Collection, Andrew Belfiglio, Shayleigh Dickson Page, Sara Pettersson, Michelle Van Rijn, Ercole Vellone, Heleen Westland, Kenneth E. Freedland, Christopher Lee, Anna Strömberg, Douglas Wiebe, Subhash Aryal, Barbara Riegel, Tiny Jaarsma

2020-Current year OA Pubs

Increasingly, studies use social media to recruit, enroll, and collect data from participants. This introduces a threat to data integrity: efforts to produce fraudulent data to receive participant compensation, e.g., gift cards. MOMENT is an online symptom-monitoring and self-care study that implemented safeguards to protect data integrity. Facebook, Twitter, and patient organizations were used to recruit participants with chronic health conditions in four countries (USA, Italy, The Netherlands, Sweden). Links to the REDCap baseline survey were posted to social media accounts. The initial study launch, where participants completed the baseline survey and were automatically re-directed to the LifeData ecological momentary …

Development Of A Two-Finger Haptic Robotic Hand With Novel Stiffness Detection And Impedance Control, Vahid Mohammadi, Ramin Shahbad, Mojtaba Hosseini, Mohammad Hossein Gholampour, Saeed Shiry Ghidary, Farshid Najafi, Ahad Behboodi

Mechanical & Aerospace Engineering Faculty Publications

Haptic hands and grippers, designed to enable skillful object manipulation, are pivotal for high-precision interaction with environments. These technologies are particularly vital in fields such as minimally invasive surgery, where they enhance surgical accuracy and tactile feedback: in the development of advanced prosthetic limbs, offering users improved functionality and a more natural sense of touch, and within industrial automation and manufacturing, they contribute to more efficient, safe, and flexible production processes. This paper presents the development of a two-finger robotic hand that employs simple yet precise strategies to manipulate objects without damaging or dropping them. Our innovative approach fused force-sensitive …

Newborn Screening Analytes And Structural Birth Defects Among 27,000 Newborns, Philip J Lupo, Natalie P Archer, Rachel D Harris, Lisa K Marengo, Jeremy M Schraw, Adrienne T Hoyt, Susan Tanksley, Rachel Lee, Margaret Drummond-Borg, Debra Freedenberg, Priya B Shetty, A J Agopian, Charles Shumate, Sonja A Rasmussen, Peter H Langlois, Mark A Canfield

Center for Medical Ethics and Health Policy Staff Publications

Background: Emerging evidence suggests newborn screening analytes may yield insights into the etiologies of birth defects, yet no effort has evaluated associations between a range of newborn screening analytes and birth defects.

Methods: This population-based study pooled statewide data on birth defects, birth certificates, and newborn screening analytes from Texas occurring between January 1, 2007 and December 31, 2009. Associations between a panel of thirty-six newborn screening analytes, collected by the statewide Texas Newborn Screening Program, and the presence of a birth defect, defined as at least one of 39 birth defects diagnoses recorded by the Texas Birth Defects Registry, …

Rragd-Associated Autosomal Dominant Kidney Hypomagnesemia With Cardiomyopathy: A Review On The Clinical Manifestations And Therapeutic Options, Francesco Trepiccione, Irene Sambri, Barbara Ruggiero, Francesco Emma, Andrea Ballabio, Giulia Florio, Ines Vanderheyden, Anna Iervolino, François Jouret

Duncan NRI Faculty and Staff Publications

Background: A hereditary condition primarily affecting the kidneys and heart has newly been identified: the RRAGD-associated autosomal dominant kidney hypomagnesemia with cardiomyopathy (ADKH-RRAGD). This disorder is characterized by renal loss of magnesium and potassium, coupled with varying degrees of cardiac dysfunction. These range from arrhythmias to severe dilated cardiomyopathy, which may require heart transplantation. Mutations associated with RRAGD significantly disrupt the non-canonical branch of the mechanistic target of rapamycin complex 1 pathway. This disruption hinders the nuclear translocation and transcriptional activity of the transcription factor EB a crucial regulator of lysosomal and autophagic function.

Summary: All identified RRAGD variants compromise …

A Search For Bacteria Identified From Cerebrospinal Fluid Shunt Infections In Previous Surgical Events, Paul Hodor, Christopher E. Pope, Kathryn B. Whitlock, Patrick J. Mcdonald, Jason Hauptman, Lucas R. Hoffman, David D. Limbrick Jr., Tamara D. Simon, Cerebrospinal Fluid Microbiota In Shunts (Climb) Study Group

2020-Current year OA Pubs

Shunt infections are a common complication when treating hydrocephalus by cerebrospinal fluid (CSF) shunt placement. The source of infecting pathogens is not well understood. One hypothesis, which we explored here, is that microorganisms persist chronically in the host long before a symptomatic infection occurs and may be detectable in surgical events preceding infection. A cohort of 13 patients was selected, for which CSF samples were available from an infection episode and from a previous surgery event, which was either an initial shunt placement or a revision. Microbiota were analyzed both directly from CSF and from isolates cultured from CSF on …

An Internet Mantram Repetition Program To Promote Well-Being In Breast Cancer Survivors: A Feasibility Randomized Controlled Trial, Jennifer M Hulett, An-Lin Cheng, Jill E Bormann, Allison B Anbari, Jane M Armer, Brooke M Hartman, B Ann Bettencourt, Leeanne B Sherwin, Edie L Sperling, Natsayakarn Narkthong, Carol Reinero, Hans Rindt, Kathy Schreiber, Lindsay L Peterson, Emily Albright

2020-Current year OA Pubs

No abstract provided.

Bradykinin Receptor Expression And Bradykinin-Mediated Sensitization Of Human Sensory Neurons, Jiwon Yi, Zachariah Bertels, John Smith Del Rosario, Allie J. Widman, Richard A. Slivicki, Maria Payne, Henry M. Susser, Bryan A. Copits, Robert W. Gereau 4th

2020-Current year OA Pubs

Bradykinin is a peptide implicated in inflammatory pain in both humans and rodents. In rodent sensory neurons, activation of B1 and B2 bradykinin receptors induces neuronal hyperexcitability. Recent evidence suggests that human and rodent dorsal root ganglia (DRG), which contain the cell bodies of sensory neurons, differ in the expression and function of key GPCRs and ion channels; whether bradykinin receptor expression and function are conserved across species has not been studied in depth. In this study, we used human DRG tissue from organ donors to provide a detailed characterization of bradykinin receptor expression and bradykinin-induced changes in the excitability …