Medicine and Health Sciences Commons^™

Autologous Humanized Pdx Modeling For Immuno-Oncology Recapitulates Features Of The Human Tumor Microenvironment, Michael Chiorazzi, Bradley Krasnick, Keenan J Robbins, Zachary Skidmore, Jacqueline Mudd, Ye Bi, S Peter Goedegebuure, Malachi Griffith, Obi Griffith, Abimbola Oyedeji, Ryan C Fields, Et Al.

2020-Current year OA Pubs

BACKGROUND: Interactions between immune and tumor cells are critical to determining cancer progression and response. In addition, preclinical prediction of immune-related drug efficacy is limited by interspecies differences between human and mouse, as well as inter-person germline and somatic variation. To address these gaps, we developed an autologous system that models the tumor microenvironment (TME) from individual patients with solid tumors.

METHOD: With patient-derived bone marrow hematopoietic stem and progenitor cells (HSPCs), we engrafted a patient's hematopoietic system in MISTRG6 mice, followed by transfer of patient-derived xenograft (PDX) tissue, providing a fully genetically matched model to recapitulate the individual's TME. …

Enhanced 3d Visualization Of Human Fallopian Tube Morphology Using A Miniature Optical Coherence Tomography Catheter, Hongbo Luo, Shuying Li, Sitai Kou, Yixiao Lin, Ian S Hagemann, Quing Zhu

2020-Current year OA Pubs

We demonstrate the use of our miniature optical coherence tomography catheter to acquire three-dimensional human fallopian tube images. Images of the fallopian tube's tissue morphology, vasculature, and tissue heterogeneity distribution are enhanced by adaptive thresholding, masking, and intensity inverting, making it easier to differentiate malignant tissue from normal tissue. The results show that normal fallopian tubes tend to have rich vasculature accompanied by a patterned tissue scattering background, features that do not appear in malignant cases. This finding suggests that miniature OCT catheters may have great potential for fast optical biopsy of the fallopian tube.

Point-Of-Care Tissue Oxygenation Assessment With Snapshotnir For Alloplastic And Autologous Breast Reconstruction, William R. Moritz, John Daines, Joani M. Christensen, Terence Myckatyn, Justin M. Sacks, Amanda M. Westman

2020-Current year OA Pubs

UNLABELLED: In breast reconstruction, mastectomy and free flaps are susceptible to vascular compromise and tissue necrosis. The SnapshotNIR device (Kent Imaging, Calgary, AB, Canada) utilizes near-infrared spectroscopy to measure tissue oxygen saturation (StO

METHODS: Patients receiving immediate alloplastic reconstruction after mastectomy or autologous reconstruction were enrolled. Preoperative, intraoperative, and postoperative images were taken of the flaps. StO

RESULTS: Thirty-two breasts underwent alloplastic reconstruction; 38 breasts underwent autologous reconstruction. No enrollees developed skin necrosis. StO

CONCLUSIONS: The SnapshotNIR device detected normal spatial and temporal differences in tissue oxygenation over the operative course of alloplastic and autologous breast reconstruction. A multi-institutional, prospective …

Real-World Outcomes Associated With Poly(Adp-Ribose) Polymerase Inhibitor Monotherapy Maintenance In Patients With Primary Advanced Ovarian Cancer, John K Chan, Jinan Liu, Jinlin Song, Cheryl Xiang, Eric Wu, Linda Kalilani, Jean A. Hurteau, Premal H. Thaker

2020-Current year OA Pubs

OBJECTIVE: This study used real-world population data to assess the trends of first-line (1L) poly(ADP-ribose) polymerase inhibitor (PARPi) maintenance treatment uptake and outcomes in patients with primary advanced ovarian cancer (AOC).

METHODS: Patients diagnosed with AOC between January 1, 2017, and June 30, 2021, who completed 1L chemotherapy were selected from a real-world database. Descriptive analyses were performed to evaluate patient demographics, clinicopathological characteristics, and 1L treatment patterns. Time to next treatment or death was used as a proxy for real-world progression-free survival (rwPFS). Kaplan-Meier methods and Cox models were used for statistical analyses.

RESULTS: Of 705 patients who completed …

Accelerated Infliximab Infusion Safety And Tolerability Is Non-Inferior To Standard Infusion Protocol In Inflammatory Bowel Disease Patients: A Randomized Controlled Study, Suha Abushamma, Ted Walker, Kevin Garza, Ling Chen, Darren Nix, Chien-Huan Chen

2020-Current year OA Pubs

BACKGROUND AND AIM: Infliximab is typically given over an infusion time of 2 hours, leading to a significant burden in inflammatory bowel disease (IBD) patients. We aimed to determine the safety and cost-effectiveness of an accelerated infliximab infusion of 1 hour, compared with the standard 2-hour infusion.

METHODS: Open-label randomized trial where IBD patients receiving maintenance infliximab infusions were randomly assigned to 1- and 2-hour infusion groups, corresponding to study and control groups, respectively. The primary outcome was the rate of infusion reactions. Secondary outcomes were assessment of the effect of premedications and immunomodulators on the rate of infusion reactions, …

Glp-1r Agonists Demonstrate Potential To Treat Wolfram Syndrome In Human Preclinical Models, Vyron Gorgogietas, Cris Brown, Fumihiko Urano, Et Al.

2020-Current year OA Pubs

AIMS/HYPOTHESIS: Wolfram syndrome is a rare autosomal recessive disorder caused by pathogenic variants in the WFS1 gene. It is characterised by insulin-dependent diabetes mellitus, optic nerve atrophy, diabetes insipidus, hearing loss and neurodegeneration. Considering the unmet treatment need for this orphan disease, this study aimed to evaluate the therapeutic potential of glucagon-like peptide 1 receptor (GLP-1R) agonists under wolframin (WFS1) deficiency with a particular focus on human beta cells and neurons.

METHODS: The effect of the GLP-1R agonists dulaglutide and exenatide was examined in Wfs1 knockout mice and in an array of human preclinical models of Wolfram syndrome, including WFS1-deficient …

Rapid And Sustained Improvements In Generalized Pustular Psoriasis Physician Global Assessment Scores With Spesolimab For Treatment Of Generalized Pustular Psoriasis Flares In The Randomized, Placebo-Controlled Effisayil 1 Study, Boni E Elewski, Mark G Lebwohl, Milan J Anadkat, Jonathan Barker, Kamran Ghoreschi, Shinichi Imafuku, Ulrich Mrowietz, Ling Li, Manuel Quaresma, Christian Thoma, Hervé Bachelez

2020-Current year OA Pubs

BACKGROUND: Effisayil 1 was a randomized, placebo-controlled study of spesolimab, which is an anti-IL-36 receptor antibody, in patients presenting with a generalized pustular psoriasis flare.

OBJECTIVE: To assess the effects of spesolimab over the 12-week study.

METHODS: The primary endpoint of the study was Generalized Pustular Psoriasis Physician Global Assessment (GPPGA) pustulation subscore of 0 at week 1. Patients (N = 53) were randomized (2:1) to receive a single intravenous dose of 900 mg spesolimab or placebo on day 1. Patients could receive open-label spesolimab for persistent flare symptoms on day 8.

RESULTS: Most patients receiving spesolimab achieved a GPPGA …

Abcc8-Related Monogenic Diabetes Presenting Like Type 1 Diabetes In An Adolescent, Alexandra E Grier, Janet B Mcgill, Sandra M Lord, Cate Speake, Carla Greenbaum, Chester E Chamberlain, Michael S German, Mark S Anderson, Irl B Hirsch

2020-Current year OA Pubs

BACKGROUND: Identifying cases of diabetes caused by single gene mutations between the more common type 1 diabetes (T1D) and type 2 diabetes (T2D) is a difficult but important task. We report the diagnosis of ATP-binding cassette transporter sub-family C member 8 (ABCC8)-related monogenic diabetes in a 35-year-old woman with a protective human leukocyte antigen (HLA) allele who was originally diagnosed with T1D at 18 years of age.

CASE REPORT: Patient A presented with polyuria, polydipsia, and hypertension at the age of 18 years and was found to have a blood glucose > 500 mg/dL (70-199 mg/dL) and an HbA1C (hemoglobin A1C) …

Delphi Consensus On Reporting Standards In Clinical Studies For Endovascular Treatment Of Acute Iliofemoral Venous Thrombosis And Chronic Iliofemoral Venous Obstruction, Suresh Vedantham, Peter Gloviczki, Teresa L. Carman, Sandra Zelman Lewis, Peter A. Schneider, Saher S. Sabri, Raghu Kolluri

2020-Current year OA Pubs

Acute iliofemoral deep vein thrombosis and chronic iliofemoral venous obstruction cause substantial patient harm and are increasingly managed with endovascular venous interventions, including percutaneous mechanical thrombectomy and stent placement. However, studies of these treatment elements have not been designed and reported with sufficient rigor to support confident conclusions about their clinical utility. In this project, the Trustworthy consensus-based statement approach was utilized to develop, via a structured process, consensus-based statements to guide future investigators of venous interventions. Thirty statements were drafted to encompass major topics relevant to venous study description and design, safety outcome assessment, efficacy outcome assessment, and topics …

Helping Low-Income Smokers Quit: Findings From A Randomized Controlled Trial Comparing Specialized Quitline Services With And Without Social Needs Navigation, Matthew W Kreuter, Lauren M Grimes, Amy Mcqueen, Et Al.

2020-Current year OA Pubs

BACKGROUND: Quitting smoking is especially challenging for low-income smokers due to high stress, high smoking prevalence around them, and limited support for quitting. This study aimed to determine whether any of three interventions designed specifically for low-income smokers would be more effective than standard tobacco quitline services: a specialized quitline, the specialized quitline with social needs navigation, or the standard quitline with social needs navigation.

METHODS: Using a randomized 2 × 2 factorial design, low-income daily cigarette smokers (n = 1944) in Missouri, USA who called a helpline seeking assistance with food, rent or other social needs were assigned to …

Nitric Oxide-Mediated S-Nitrosylation Of Iaa17 Protein In Intrinsically Disordered Region Represses Auxin Signaling, Hongwei Jing, Xiaolu Yang, Ryan J Emenecker, Jian Feng, Jian Zhang, Marcelo Rodrigues Alves De Figueiredo, Patarasuda Chaisupa, R Clay Wright, Alex S Holehouse, Lucia C Strader, Jianru Zuo

2020-Current year OA Pubs

The phytohormone auxin plays crucial roles in nearly every aspect of plant growth and development. Auxin signaling is activated through the phytohormone-induced proteasomal degradation of the Auxin/INDOLE-3-ACETIC ACID (Aux/IAA) family of transcriptional repressors. Notably, many auxin-modulated physiological processes are also regulated by nitric oxide (NO) that executes its biological effects predominantly through protein S-nitrosylation at specific cysteine residues. However, little is known about the molecular mechanisms in regulating the interactive NO and auxin networks. Here, we show that NO represses auxin signaling by inhibiting IAA17 protein degradation. NO induces the S-nitrosylation of Cys-70 located in the intrinsically disordered region of …

A Geriatric Approach To Percutaneous Coronary Interventions In Older Adults, Part Ii: A Jacc: Advances Expert Panel, Michael G Nanna, Michael W Rich, Et Al.

2020-Current year OA Pubs

We review a comprehensive risk assessment approach for percutaneous coronary interventions in older adults and highlight the relevance of geriatric syndromes within that broader perspective to optimize patient-centered outcomes in interventional cardiology practice. Reflecting the influence of geriatric principles in older adults undergoing percutaneous coronary interventions, we propose a "geriatric" heart team to incorporate the expertise of geriatric specialists in addition to the traditional heart team members, facilitate uptake of the geriatric risk assessment into the preprocedural risk assessment, and address ways to mitigate these geriatric risks. We also address goals of care in older adults, highlighting common priorities that …

An Rrna Fragment In Extracellular Vesicles Secreted By Human Airway Epithelial Cells Increases The Fluoroquinolone Sensitivity Of P. Aeruginosa, Katja Koeppen, Thomas H Hampton, Roxanna Barnaby, Carolyn Roche, Scott A Gerber, Young Ah Goo, Byoung-Kyu Cho, Danielle M Vermilyea, Deborah A Hogan, Bruce A Stanton

2020-Current year OA Pubs

Lung infections caused by antibiotic-resistant strains of

Provider Perspectives On Patient-Centredness: Participatory Formative Research And Rapid Analysis Methods To Inform The Design And Implementation Of A Facility-Based Hiv Care Improvement Intervention In Zambia, Chanda Mwamba, Laura K Beres, Njekwa Mukamba, Lazarus Jere, Marksman Foloko, Kasapo Lumbo, Kombatende Sikombe, Sandra Simbeza, Aaloke Mody, Jake M Pry, Charles B Holmes, Izukanji Sikazwe, Carolyn Bolton Moore, Katerina Christopoulos, Anjali Sharma, Elvin H Geng

2020-Current year OA Pubs

INTRODUCTION: Implementation of patient-centred care (PCC) practices in HIV treatment depends on healthcare workers' (HCWs) perceptions of the acceptability, appropriateness and feasibility of such practices (e.g. use of intentional, metric-driven activities to improve patient experiences).

METHODS: We applied rapid, rigorous formative research methods to refine a PCC intervention for future trial. In 2018, we conducted focus group discussions (FGDs) with 46 HCWs purposefully selected from two pilot sites. We elicited HCW perceptions of HIV service delivery, HCW motivation and perceived value of patient experience measures intended to improve PCC. FGDs utilized participatory methods to understand HCW responses to patient-reported care …

Dietary Patterns Are Not Associated With Disease Activity Among Patients With Inflammatory Conditions Of The Pouch In A Prospective Cohort, Edward L Barnes, Poonam Beniwal-Patel, Parakkal Deepak, Laura Raffals, Maia Kayal, Marla Dubinsky, Shannon Chang, Peter D R Higgins, Jennifer I Barr, Chelsea Anderson, Raymond K Cross, Millie D Long, Hans H Herfarth

2020-Current year OA Pubs

BACKGROUND: Evidence-based recommendations regarding the influence of diet on inflammatory conditions of the pouch after restorative proctocolectomy with ileal pouch-anal anastomosis (IPAA) are limited.

METHODS: We analyzed dietary patterns at enrollment in a prospective registry of patients with 1 of 4 inflammatory conditions of the pouch (acute pouchitis, chronic antibiotic-dependent pouchitis, chronic antibiotic refractory pouchitis, and Crohn's disease of the pouch). We analyzed dietary intake by disease activity at enrollment and then compared dietary patterns among patients who remained in remission throughout the 12-month follow-up to those patients who experienced a disease relapse. We also compared dietary patterns among patients …

Healthcare Costs Of Clostridioides Difficile Infection In Commercially Insured Younger Adults, John M Sahrmann, Margaret A Olsen, Matthew R Keller, Holly Yu, Erik R Dubberke

2020-Current year OA Pubs

In a US adult population aged <65 years, attributable costs due to

Ethanolaminephosphate Cytidylyltransferase Is Essential For Survival, Lipid Homeostasis And Stress Tolerance In Leishmania Major, Somrita Basu, Mattie C. Pawlowic, Fong-Fu Hsu, Geoff Thomas, Kai Zhang

2020-Current year OA Pubs

Glycerophospholipids including phosphatidylethanolamine (PE) and phosphatidylcholine (PC) are vital components of biological membranes. Trypanosomatid parasites of the genus Leishmania can acquire PE and PC via de novo synthesis and the uptake/remodeling of host lipids. In this study, we investigated the ethanolaminephosphate cytidylyltransferase (EPCT) in Leishmania major, which is the causative agent for cutaneous leishmaniasis. EPCT is a key enzyme in the ethanolamine branch of the Kennedy pathway which is responsible for the de novo synthesis of PE. Our results demonstrate that L. major EPCT is a cytosolic protein capable of catalyzing the formation of CDP-ethanolamine from ethanolamine-phosphate and cytidine triphosphate. …

Exploring The Natural History Of Intrinsic Capacity Impairments: Longitudinal Patterns In The 10/66 Study, Emmanuel Gonzalez-Bautista, Jorge Jesus Llibre-Guerra, Ana L Sosa, Isaac Acosta, Sandrine Andrieu, Daisy Acosta, Juan De Jesús Llibre-Rodríguez, Matthew Prina

2020-Current year OA Pubs

BACKGROUND: intrinsic capacity (IC) is a construct encompassing people's physical and mental abilities. There is an implicit link amongst IC domains: cognition, locomotion, nutrition, sensory and psychological. However, little is known about the integration of the domains.

OBJECTIVES: to investigate patterns in the presentation and evolution of IC domain impairments in low-and-middle-income countries and if such patterns were associated with adverse outcomes.

METHODS: secondary analyses of the first two waves of the 10/66 study (population-based surveys conducted in eight urban and four rural catchment areas in Cuba, Dominican Republic, Puerto Rico, Venezuela, Peru, Mexico and China). We applied latent transition …

Epigenetic Reprogramming Of Cell Cycle Genes By Ack1 Promotes Breast Cancer Resistance To Cdk4/6 Inhibitor, Mithila Sawant, Audrey Wilson, Dhivya Sridaran, Kiran Mahajan, Christopher J O'Conor, Ian S Hagemann, Jingqin Luo, Cody Weimholt, Tiandao Li, Juan Carlos Roa, Akhilesh Pandey, Xinyan Wu, Nupam P Mahajan

2020-Current year OA Pubs

Hormone receptor-positive, HER2-negative advanced breast cancers exhibit high sensitivity to CDK4/6 inhibitors such as palbociclib. However, most patients inevitably develop resistance, thus identification of new actionable therapeutic targets to overcome the recurrent disease is an urgent need. Immunohistochemical studies of tissue microarray revealed increased activation of non-receptor tyrosine kinase, ACK1 (also known as TNK2) in most of the breast cancer subtypes, independent of their hormone receptor status. Chromatin immunoprecipitation studies demonstrated that the nuclear target of activated ACK1, pY88-H4 epigenetic marks, were deposited at cell cycle genes, CCNB1, CCNB2 and CDC20, which in turn initiated their efficient transcription. Pharmacological inhibition …

Organization Of The Human Intestine At Single-Cell Resolution, John W Hickey, Zhengyan Zhang, Yiing Lin, Et Al.

2020-Current year OA Pubs

The intestine is a complex organ that promotes digestion, extracts nutrients, participates in immune surveillance, maintains critical symbiotic relationships with microbiota and affects overall health

Esthesioneuroblastoma: Management Of The N0 Neck, Stephanie J. Youssef, Nyssa Fox Farrell

2020-Current year OA Pubs

Esthesioneuroblastoma is a rare sinonasal malignancy that arises from the olfactory epithelium. The overall incidence of lymph node metastases is 25%. However, neck disease can present in a delayed fashion. As such, management of the clinically negative neck is controversial, with some advocating for elective neck treatment and others recommending observation with salvage treatment if necessary. At this time, no prospective head-to-head comparisons of elective versus salvage treatment have been performed.

Toward Peripheral Nerve Mechanical Characterization Using Brillouin Imaging Spectroscopy, Vsevolod Cheburkanov, Junwei Du, David M. Brogan, Mikhail Y. Berezin, Vladislav V. Yakovlev

2020-Current year OA Pubs

SIGNIFICANCE: Peripheral nerves are viscoelastic tissues with unique elastic characteristics. Imaging of peripheral nerve elasticity is important in medicine, particularly in the context of nerve injury and repair. Elasticity imaging techniques provide information about the mechanical properties of peripheral nerves, which can be useful in identifying areas of nerve damage or compression, as well as assessing the success of nerve repair procedures.

AIM: We aim to assess the feasibility of Brillouin microspectroscopy for peripheral nerve imaging of elasticity, with the ultimate goal of developing a new diagnostic tool for peripheral nerve injury

APPROACH: Viscoelastic properties of the peripheral nerve were …

Future Considerations In The Diagnosis And Treatment Of Compressive Neuropathies Of The Upper Extremity, Elizabeth A Graesser, Christopher J Dy, David M Brogan

2020-Current year OA Pubs

Compressive neuropathies of the upper extremity are among the most common conditions seen by hand surgeons. The diagnoses of carpal tunnel syndrome and cubital tunnel syndrome have traditionally been made by a combination of history, physical examination, and electrodiagnostic testing. However, findings can be nonspecific and electrodiagnostic testing is invasive for the patient. The diagnosis of compressive neuropathies continues to evolve as technology advances, and newer diagnostic modalities predominantly focus on preoperative diagnostic imaging with ultrasound and magnetic resonance imaging/neurography. With the advent of cheaper, faster, and less invasive imaging, the future may bring a paradigm shift away from electrophysiology …

Complete Hydatidiform Mole With A Coexisting Viable Male Fetus Detected By Cell-Free Dna, Mackenzie Lemieux, Lauren Kus, Kali Stewart, Mai He, Jackson Rowe, Matthew Brady, Katherine Bligard, Megan Lawlor, Jeannie Kelly

2020-Current year OA Pubs

Complete hydatidiform mole with coexisting fetus (CHMCF) is rare, and diagnosis is challenging due to limited data. Here, we present the case of a patient with noninvasive prenatal test (NIPT) resulting in "likely molar pregnancy" in the second trimester. Subsequent ultrasound confirmed a cystic appearing portion of the placenta. At 22 weeks, the patient delivered a demised fetus and two placentas. Pathology was consistent with CHMCF. This case is the first to show primary detection of a CHMCF with single-nucleotide polymorphism (SNP)-based NIPT prior to ultrasound identification. Our case suggests the use of SNP-based NIPT as an alternative noninvasive method …

Multiparametric Immunoimaging Maps Inflammatory Signatures In Murine Myocardial Infarction Models, Alexander Maier, Gyu Seong Heo, Robert J Gropler, Yongjian Liu, Et Al.

2020-Current year OA Pubs

In the past 2 decades, research on atherosclerotic cardiovascular disease has uncovered inflammation to be a key driver of the pathophysiological process. A pressing need therefore exists to quantitatively and longitudinally probe inflammation, in preclinical models and in cardiovascular disease patients, ideally using non-invasive methods and at multiple levels. Here, we developed and employed

Recurrent Myocardial Injury Leads To Disease Tolerance In A Murine Model Of Stress-Induced Cardiomyopathy, Sajal K Tiwary, Tomohiro Hayashi, Attila Kovacs, Douglas L Mann

2020-Current year OA Pubs

Whereas the innate immune response to an initial episode of cardiac injury has been studied extensively, the response of the immune system to recurrent cardiac tissue injury is not well understood. Specifically, it is not known whether the immune system adapts to the initial episode of cardiac injury and whether any adaptations that occur lead to immune cell hypo-responsiveness or, alternatively, immune cell hyper-responsiveness. Here, we studied the role of adrenergic-mediated stress using a simple model of reversible stress-induced cardiomyopathy, and show that isoproterenol-induced tissue injury and inflammation are sufficient to protect the heart from the myopathic effects of a …

Encoding And Storage Of Information In Mechanical Metamaterials, Zhiqiang Meng, Hujie Yan, Mingchao Liu, Wenkai Qin, Guy M Genin, Chang Qing Chen

2020-Current year OA Pubs

Information processing using material's own properties has gained increasing interest. Mechanical metamaterials, due to their diversity of deformation modes and wide design space, can be used to realize information processing, such as computing and storage. Here a mechanical metamaterial system is demonstrated for material-based encoding and storage of data through programmed reconfigurations of the metamaterial's structured building blocks. Sequential encoding and decoding are achieved in the three-dimensional (3D) printed pixelated mechanical metamaterial via kirigami-based "pixels" with programmable, temperature-dependent bistability. The mechanical metamaterial is demonstrated via a multistep deformation of encoding messages of texts and surfaces with arrays of binary data, …

Economic Impact Of Recurrent Clostridioides Difficile Infection In The Usa: A Systematic Literature Review And Cost Synthesis, Kelly R Reveles, Min Yang, Viviana Garcia-Horton, Marie Louise Edwards, Amy Guo, Thomas Lodise, Markian Bochan, Glenn Tillotson, Erik R Dubberke

2020-Current year OA Pubs

INTRODUCTION: Up to 35% of patients with a first episode of Clostridioides difficile infection (CDI) develop recurrent CDI (rCDI), and of those, up to 65% experience multiple recurrences. A systematic literature review (SLR) was conducted to review and summarize the economic impact of rCDI in the United States of America.

METHODS: English-language publications reporting real-world healthcare resource utilization (HRU) and/or direct medical costs associated with rCDI in the USA were searched in MEDLINE, MEDLINE In-Process, Embase, and the Cochrane Library databases over the past 10 years (2012-2022), as well as in selected scientific conferences that publish research on rCDI and …

Postmortem Diagnosis Of Very Long Chain Acyl-Coa Dehydrogenase (Vlcad) Deficiency In A Neonate With Sudden Cardiac Death, Prapti Singh, Deirdre Amaro, Olugbemisola Obi, Fnu Kiran, Erin Hediger, Tomi L Toler, Patricia I Dickson, Dorothy K Grange

2020-Current year OA Pubs

Very long chain acyl-CoA dehydrogenase (VLCAD) deficiency is an autosomal recessive long chain fatty acid β-oxidation disorder with a variable clinical spectrum, ranging from an acute neonatal presentation with cardiac and hepatic failure to childhood or adult onset of symptoms with hepatomegaly or rhabdomyolysis provoked by illness or exertion. Neonatal cardiac arrest or sudden unexpected death can be the presenting phenotype in some patients, emphasizing the importance of early clinical suspicion and intervention. We report a patient who had a cardiac arrest and died at one day of age. Following her death, the newborn screen reported biochemical evidence of VLCAD …

Neuroinflammation And White Matter Alterations In Occupational Manganese Exposure Assessed By Diffusion Basis Spectrum Imaging, Susan R Criswell, Susan Searles Nielsen, Irene M Faust, Joshua S Shimony, Robert L White 3rd, Jason Lenox-Krug, Brad A Racette

2020-Current year OA Pubs

OBJECTIVE: To evaluate in-vivo neuroinflammation and white matter (WM) microstructural integrity in occupational manganese (Mn) exposure.

METHODS: We assessed brain inflammation using Diffusion Basis Spectrum Imaging (DBSI) in 26 Mn-exposed welders, 17 Mn-exposed workers, and 26 non-exposed participants. Cumulative Mn exposure was estimated from work histories and the Unified Parkinson's Disease Rating Scale motor subsection 3 (UPDRS3) scores were completed by a movement specialist. Tract-based Spatial Statistics allowed for whole-brain voxel-wise WM analyses to compare WM DBSI-derived measures between the Mn-exposed and non-exposed groups. Exploratory grey matter region of interest (ROI) analyses examined the presence of similar alterations in the …