Digital Commons Network^™

Newborn Screening For Pompe Disease In Illinois: Experience With 684,290 Infants, Barbara K Burton, Joel Charrow, George E Hoganson, Julie Fleischer, Dorothy K Grange, Stephen R Braddock, Lauren Hitchins, Rachel Hickey, Katherine M Christensen, Daniel Groepper, Heather Shryock, Pamela Smith, Rong Shao, Khaja Basheeruddin

Open Access Publications

Statewide newborn screening for Pompe disease began in Illinois in 2015. As of 30 September 2019, a total of 684,290 infants had been screened and 395 infants (0.06%) were screen positive. A total of 29 cases of Pompe disease were identified (3 infantile, 26 late-onset). While many of the remainder were found to have normal alpha-glucosidase activity on the follow-up testing (234 of 395), other findings included 62 carriers, 39 infants with pseudodeficiency, and eight infants who could not be given a definitive diagnosis due to inconclusive follow-up testing.

A Pilot Study Of Cardiac Mri In Breast Cancer Survivors After Cardiotoxic Chemotherapy And Three-Dimensional Conformal Radiotherapy, Carmen Bergom, Jason Rubenstein, J Frank Wilson, Aimee Welsh, El-Sayed H Ibrahim, Phillip Prior, Aronne M Schottstaedt, Daniel Eastwood, Mei-Jie Zhang, Adam Currey, Lindsay Puckett, Jennifer L Strande, Julie A Bradley, Julia White

Open Access Publications

Purpose/Objectives: Node-positive breast cancer patients often receive chemotherapy and regional nodal irradiation. The cardiotoxic effects of these treatments, however, may offset some of the survival benefit. Cardiac magnetic resonance (CMR) is an emerging modality to assess cardiac injury. This is a pilot trial assessing cardiac damage using CMR in patients who received anthracycline-based chemotherapy and three-dimensional conformal radiotherapy (3DCRT) regional nodal irradiation using heart constraints.

Materials and Methods: Node-positive breast cancer patients (2000-2008) treated with anthracycline-based chemotherapy and 3DCRT regional nodal irradiation (including the internal mammary chain nodes) with heart ventricular constraints (V25 < 10%) were invited to participate. Cardiac tissues were contoured and analyzed separately for whole heart (pericardium) and for combined ventricles and left atrium (myocardium). CMR obtained ventricular function/dimensions, late gadolinium enhancement (LGE), global longitudinal strain (GLS), and extracellular volume fraction (ECV) as measures of cardiac injury and/or early fibrosis. CMR parameters were correlated with dose-volume constraints using Spearman correlations.

Results: Fifteen left-sided and five right-sided patients …

Californians Linking Action With Science For Prevention Of Breast Cancer (Clasp-Bc)-Phase 2, Jon F Kerner, Marion H E Kavanaugh-Lynch, Christopher Politis, Lourdes Baezconde-Garbanati, Aviva Prager, Ross C Brownson

Open Access Publications

Californians Linking Action with Science for Prevention of Breast Cancer (CLASP-BC) is part of California Breast Cancer Research Program's (CBCRP) Initiative strategic priority to disseminate and implement high-impact, population-based primary prevention interventions. CLASP-BC is informed by six years of funded program dissemination and implementation (D&I) research and evaluation conducted by the Canadian Partnership Against Cancer (CPAC) through its Coalitions Linking Action and Science for Prevention (CLASP). In its second phase, CLASP-BC will fund multi-sector, multi-jurisdictional initiatives that integrate the lessons learned from science with the lessons learned from practice and policy to reduce the risk of developing breast cancer and …

The Global And National Burden Of Chronic Kidney Disease Attributable To Ambient Fine Particulate Matter Air Pollution: A Modelling Study, Benjamin Bowe, Elena Artimovich, Yan Xie, Yan Yan, Miao Cai, Ziyad Al-Aly

Open Access Publications

Introduction: We aimed to integrate all available epidemiological evidence to characterise an exposure-response model of ambient fine particulate matter (PM

Methods: We collected data from prior studies on the association of PM

Results: The exposure-response function exhibited evidence of an increase in risk with increasing PM

Conclusion: The global burden of CKD attributable to PM

Patient-Controlled Intravenous Morphine Analgesia Combined With Transcranial Direct Current Stimulation For Post-Thoracotomy Pain: A Cost-Effectiveness Study And A Feasibility For Its Future Implementation, Nemanja Rancic, Katarina Mladenovic, Nela V Ilic, Viktorija Dragojevic-Simic, Menelaos Karanikolas, Tihomir V Ilic, Dusica M Stamenkovic

Open Access Publications

This prospective randomized study aims to evaluate the feasibility and cost-effectiveness of combining transcranial direct current stimulation (tDCS) with patient controlled intravenous morphine analgesia (PCA-IV) as part of multimodal analgesia after thoracotomy. Patients assigned to the active treatment group (a-tDCS,

Histopathologic, Immunophenotypic, And Proteomics Characteristics Of Low-Grade Phyllodes Tumor And Fibroadenoma: More Similarities Than Differences, Lingxin Zhang, Chen Tang, John D. Pfeifer, Richard M. Caprioli, Audra M. Judd, Nathan H. Patterson, Michelle L. Reyzer, Jeremy L. Norris, Horacio M. Maluf

Open Access Publications

No abstract provided.

Efficacy And Safety Of Tocilizumab In The Treatment Of Acute Active Antibody-Mediated Rejection In Kidney Transplant Recipients, April A. Pottebaum, Karthikeyan Venkatachalam, Chang Liu, Daniel C. Brennan, Haris Murad, Andrew F. Malone, Tarek Alhamad

Open Access Publications

No abstract provided.

Gata2 Regulates Constitutive Pd-L1 And Pd-L2 Expression In Brain Tumors, Yujie Fu, Connor J. Liu, Dale K. Kobayashi, Tanner M. Johanns, Jay A. Bowman-Kirigin, Maximilian O. Schaettler, Diane D. Mao, Diane Bender, Diane G. Kelley, Ravindra Uppaluri, Wenya Linda Bi, Ian F. Dunn, Yu Tao, Jingqin Luo, Albert H. Kim, Gavin P. Dunn

Open Access Publications

No abstract provided.

Quantitative Cardiac Magnetic Resonance T2 Imaging Offers Ability To Non-Invasively Predict Acute Allograft Rejection In Children, Neeta Sethi, Ashish Doshi, Tina Doshi, Russell Cross, Ileen Cronin, Elena Amin, Joshua Kanter, Janet Scheel, Sairah Khan, Adrienne Campbell-Washburn, Laura Olivieri

Open Access Publications

BACKGROUND: Monitoring for acute allograft rejection improves outcomes after cardiac transplantation. Endomyocardial biopsy is the gold standard test defining rejection, but carries risk and has limitations. Cardiac magnetic resonance T2 mapping may be able to predict rejection in adults, but has not been studied in children. Our aim was to evaluate T2 mapping in identifying paediatric cardiac transplant patients with acute rejection.

METHODS: Eleven paediatric transplant patients presenting 18 times were prospectively enrolled for non-contrast cardiac magnetic resonance at 1.5 T followed by endomyocardial biopsy. Imaging included volumetry, flow, and T2 mapping. Regions of interest were manually selected on the …

Pragmatic Application Of The Re-Aim Framework To Evaluate The Implementation Of Tobacco Cessation Programs Within Nci-Designated Cancer Centers, Heather D'Angelo, Alex T Ramsey, Li-Shiun Chen, Et Al

Open Access Publications

Tobacco cessation after cancer diagnosis leads to better patient outcomes. However, tobacco treatment services are frequently unavailable in cancer care settings, and multilevel implementation challenges can impede uptake of new programs. The National Cancer Institute (NCI) dedicated Cancer Moonshot funding through the Cancer Center Cessation Initiative (C3I) for NCI-Designated Cancer Centers to implement or enhance the implementation of tobacco treatment services. We examined a pragmatic application of the RE-AIM framework (reach, effectiveness, adoption, implementation, and maintenance) to evaluate tobacco treatment programs implemented within Cancer Centers funded through C3I. Using three C3I-funded Centers as examples, we describe how each RE-AIM construct …

Design And Rationale Of The Hapin Study: A Multicountry Randomized Controlled Trial To Assess The Effect Of Liquefied Petroleum Gas Stove And Continuous Fuel Distribution, Thomas Clasen, Victor G. Davila-Roman, Et Al.

Open Access Publications

No abstract provided.

Feasibility And Safety Of Focused Ultrasound-Enabled Liquid Biopsy In The Brain Of A Porcine Model, Christopher Pham Pacia, Lifei Zhu, Yaoheng Yang, Yimei Yue, Arash Nazeri, H. Michael Gach, Michael R. Talcott, Eric C. Leuthardt, Hong Chen

Open Access Publications

No abstract provided.

Association Of Ptsd Symptom Groups With Functional Impairment And Distress In Trauma-Exposed Disaster Survivors, Carol S North, Erin Van Enkevort, Barry A Hong, Alina M Surís

Open Access Publications

BACKGROUND: In the nearly a quarter of a century since the addition of the clinically significant distress/impairment criterion to the definition of PTSD in DSM-IV, little research has been done to examine the association of this criterion with symptom group criteria and with the numbing subgroup specifically. This study was conducted to examine these relationships in a large database of disaster survivors consistently studied across 12 different incidents of the full range of disaster typology.

METHODS: Analysis was conducted on a merged database representing 1187 trauma-exposed survivors of 12 different disasters studied systematically. DSM-IV-TR criteria for disaster-related PTSD were assessed …

Gene Expression In Meniscal Tears At The Time Of Arthroscopic Partial Meniscectomy Predicts The Progression Of Osteoarthritis Within 6 Years Of Surgery, Joseph D. Lamplot, Muhammad Farooq Rai, William P. Tompkins, Michael V. Friedman, Eric J. Schmidt, Linda J. Sandell, Robert H. Brophy

Open Access Publications

No abstract provided.

Survival Following Allogeneic Transplant In Patients With Myelofibrosis, Krisstina Gowin, Kierstin Luber, Et Al.

Open Access Publications

No abstract provided.

Ancestry Specific Associations Of Fto Gene Variant And Metabolic Syndrome: A Longitudinal Aric Study, Dale S. Hardy, Jane T. Garvin, Tesfaye B. Mersha, Susan B. Racette

Open Access Publications

No abstract provided.

Proteomic Resistance Biomarkers For Pi3k Inhibitor In Triple Negative Breast Cancer Patient-Derived Xenograft Models, Zhanfang Guo, Tina Primeau, Jingqin Luo, Cynthia Zhang, Hua Sun, Jeremy Hoog, Feng Gao, Shixia Huang, Dean P Edwards, Sherri R Davies, Rebecca Aft, Li Ding, Matthew J Ellis, Shunqiang Li, Cynthia X Ma

Open Access Publications

PI3K pathway activation is frequently observed in triple negative breast cancer (TNBC). However, single agent PI3K inhibitors have shown limited anti-tumor activity. To investigate biomarkers of response and resistance mechanisms, we tested 17 TNBC patient-derived xenograft (PDX) models representing diverse genomic backgrounds and varying degrees of PI3K pathway signaling activities for their tumor growth response to the pan-PI3K inhibitor, BKM120. Baseline and post-treatment PDX tumors were subjected to reverse phase protein array (RPPA) to identify protein markers associated with tumor growth response. While BKM120 consistently reduced PI3K pathway activity, as demonstrated by reduced levels of phosphorylated AKT, percentage tumor growth …

Simultaneous Immunization With Omp25 And L7/L12 Provides Protection Against Brucellosis In Mice, Sonal Gupta, Surender Mohan, Vikas Kumar Somani, Somya Aggarwal, Rakesh Bhatnagar

Open Access Publications

Currently used

Indian Medicinal Herbs And Formulations For Alzheimer's Disease, From Traditional Knowledge To Scientific Assessment, Jogender Mehla, Pooja Gupta, Monika Pahuja, Deepti Diwan, Diksha Diksha

Open Access Publications

Cognitive impairment, associated with ageing, stress, hypertension and various neurodegenerative disorders including Parkinson's disease and epilepsy, is a major health issue. The present review focuses on Alzheimer's disease (AD), since it is the most important cause of cognitive impairment. It is characterized by progressive memory loss, language deficits, depression, agitation, mood disturbances and psychosis. Although the hallmarks of AD are cholinergic dysfunction, β-amyloid plaques and neurofibrillary tangle formation, it is also associated with derangement of other neurotransmitters, elevated levels of advanced glycation end products, oxidative damage, neuroinflammation, genetic and environmental factors. On one hand, this complex etiopathology makes a response …

A Ventrolateral Medulla-Midline Thalamic Circuit For Hypoglycemic Feeding, B. Sofia Beas, Xinglong Gu, Yan Leng, Omar Koita, Shakira Rodriguez-Gonzalez, Morgan Kindel, Bridget A. Matikainen-Ankney, Rylan S. Larsen, Alexxai V. Kravitz, Mark A. Hoon, Mario A. Penzo

Open Access Publications

No abstract provided.

American Society Of Hematology 2020 Guidelines For Management Of Venous Thromboembolism: Treatment Of Deep Vein Thrombosis And Pulmonary Embolism, Thomas L. Ortel, Suresh Vedantham, Et Al.

Open Access Publications

No abstract provided.

Pkis Deep Dive Yields A Chemical Starting Point For Dark Kinases And A Cell Active Brsk2 Inhibitor, Tigist Y. Tamir, David H. Drewry, Carrow Wells, M. Ben Major, Alison D. Axtman

Open Access Publications

No abstract provided.

Rates Of Brain Atrophy Across Disease Stages In Familial Frontotemporal Dementia Associated With Mapt, Grn, And C9orf72 Pathogenic Variants, Adam M. Staffaroni, Nupur Ghoshal, Et Al

Open Access Publications

Importance: Several clinical trials are planned for familial forms of frontotemporal lobar degeneration (f-FTLD). Precise modeling of brain atrophy in f-FTLD could improve the power to detect a treatment effect.

Objective: To characterize regions and rates of atrophy in the 3 primary f-FTLD genetic groups (MAPT, GRN, and C9orf72) across all disease stages from asymptomatic to dementia.

Design, Setting, and Participants: This investigation was a case-control study of participants enrolled in the Advancing Research and Treatment for Frontotemporal Lobar Degeneration or Longitudinal Evaluation of Familial Frontotemporal Dementia studies. The study took place at 18 North American academic medical centers between …

Marrowquant Across Aging And Aplasia: A Digital Pathology Workflow For Quantification Of Bone Marrow Compartments In Histological Sections, Josefine Tratwal, Erica L Scheller, Et Al

Open Access Publications

The bone marrow (BM) exists heterogeneously as hematopoietic/red or adipocytic/yellow marrow depending on skeletal location, age, and physiological condition. Mouse models and patients undergoing radio/chemotherapy or suffering acute BM failure endure rapid adipocytic conversion of the marrow microenvironment, the so-called "red-to-yellow" transition. Following hematopoietic recovery, such as upon BM transplantation, a "yellow-to-red" transition occurs and functional hematopoiesis is restored. Gold Standards to estimate BM cellular composition are pathologists' assessment of hematopoietic cellularity in hematoxylin and eosin (H&E) stained histological sections as well as volumetric measurements of marrow adiposity with contrast-enhanced micro-computerized tomography (CE-μCT) upon osmium-tetroxide lipid staining. Due to user-dependent …

Genetic Architecture Of Circulating Very-Long-Chain (C24:0 And C22:0) Ceramide Concentrations, Sharon Cresci, Ruibo Zhang, Qiong Yang, Meredith S Duncan, Vanessa Xanthakis, Xuntian Jiang, Ramachandran S Vasan, Jean E Schaffer, Linda R Peterson

Open Access Publications

OBJECTIVE: Total ceramide concentrations are linked with increased insulin resistance and cardiac dysfunction. However, recent studies have demonstrated that plasma concentrations of specific very-long-chain fatty ceramides (C24:0 and C22:0) are associated with a reduced incidence of coronary heart disease and all-cause mortality. We hypothesized that specific genetic loci are associated with plasma C22:0 and C24:0 concentrations.

METHODS: Heritability and genome-wide association studies of plasma C24:0 and C22:0 ceramide concentrations were performed among 2,217 participants in the Framingham Heart Study Offspring Cohort, adjusting for cardiovascular risk factor covariates and cardiovascular drug treatment.

RESULTS: The multivariable-adjusted heritability for C22:0 and C24:0 ceramides …

Monocyte Distribution Width Enhances Early Sepsis Detection In The Emergency Department Beyond Sirs And Qsofa, Elliott D Crouser, Joseph E Parrillo, Greg S Martin, David T Huang, Pierre Hausfater, Ilya Grigorov, Diana Careaga, Tiffany Osborn, Mohamad Hasan, Liliana Tejidor

Open Access Publications

BACKGROUND: The initial presentation of sepsis in the emergency department (ED) is difficult to distinguish from other acute illnesses based upon similar clinical presentations. A new blood parameter, a measurement of increased monocyte volume distribution width (MDW), may be used in combination with other clinical parameters to improve early sepsis detection. We sought to determine if MDW, when combined with other available clinical parameters at the time of ED presentation, improves the early detection of sepsis.

METHODS: A retrospective analysis of prospectively collected clinical data available during the initial ED encounter of 2158 adult patients who were enrolled from emergency …

The At(N) Framework For Alzheimer's Disease In Adults With Down Syndrome, Michael S Rafii, Beau M Ances, Et Al

Open Access Publications

The National Institute on Aging in conjunction with the Alzheimer's Association (NIA-AA) recently proposed a biological framework for defining the Alzheimer's disease (AD) continuum. This new framework is based upon the key AD biomarkers (amyloid, tau, neurodegeneration, AT[N]) instead of clinical symptoms and represents the latest understanding that the pathological processes underlying AD begin decades before the manifestation of symptoms. By using these same biomarkers, individuals with Down syndrome (DS), who are genetically predisposed to developing AD, can also be placed more precisely along the AD continuum. The A/T(N) framework is therefore thought to provide an objective manner by which …

Eflornithine Plus Sulindac For Prevention Of Progression In Familial Adenomatous Polyposis, Carol A. Burke, Paul E. Wise, Et Al

Open Access Publications

No abstract provided.

Differentiating Among Stages Of Cognitive Impairment In Aging: Version 3 Of The Uniform Data Set (Uds) Neuropsychological Test Battery And Moca Index Scores, Hiroko H Dodge, John C Morris, Et Al

Open Access Publications

Introduction: Federally funded Alzheimer's Disease Centers in the United States have been using a standardized neuropsychological test battery as part of the National Alzheimer's Coordinating Center Uniform Data Set (UDS) since 2005. Version 3 (V3) of the UDS replaced the previous version (V2) in 2015. We compared V2 and V3 neuropsychological tests with respect to their ability to distinguish among the Clinical Dementia Rating (CDR) global scores of 0, 0.5, and 1.

Methods: First, we matched participants receiving V2 tests (V2 cohort) and V3 tests (V3 cohort) in their cognitive functions using tests common to both versions. Then, we compared …

Effects Of Cyp46a1 Inhibition On Long-Term-Depression In Hippocampal Slices Ex Vivo And 24s-Hydroxycholesterol Levels In Mice In Vivo, Michael Popiolek, Yukitoshi Izumi, Allen T Hopper, Jing Dai, Silke Miller, Hong-Jin Shu, Charles F Zorumski, Steven Mennerick

Open Access Publications

The manipulation of cholesterol and its metabolites has been hypothesized to be therapeutically beneficial for mood disorders, neurodegenerative disorders, and epilepsies. A major regulator of cholesterol clearance and turnover in the central nervous system is CYP46A1, a brain enriched enzyme responsible for metabolism of cholesterol into 24S-hydroxycholesterol. Inhibition of this enzyme may negatively modulate NMDARs as 24S-hydroxycholesterol was shown to enhance NMDAR function. In addition, alterations of local cholesterol or other changes mediated by CYP46A1 activity could have important influences on central nervous system function. Here we demonstrate that humans and mice display brain region specific and similar CYP46A1 and …