Digital Commons Network^™

Krabbe Disease Successfully Treated Via Monotherapy Of Intrathecal Gene Therapy, Allison M Bradbury, Xuntian Jiang, Mark S Sands, Daniel S Ory, Et Al

Open Access Publications

Globoid cell leukodystrophy (GLD; Krabbe disease) is a progressive, incurable neurodegenerative disease caused by deficient activity of the hydrolytic enzyme galactosylceramidase (GALC). The ensuing cytotoxic accumulation of psychosine results in diffuse central and peripheral nervous system (CNS, PNS) demyelination. Presymptomatic hematopoietic stem cell transplantation (HSCT) is the only treatment for infantile-onset GLD; however, clinical outcomes of HSCT recipients often remain poor, and procedure-related morbidity is high. There are no effective therapies for symptomatic patients. Herein, we demonstrate in the naturally occurring canine model of GLD that presymptomatic monotherapy with intrathecal AAV9 encoding canine GALC administered into the cisterna magna increased …

Smoking-By-Genotype Interaction In Type 2 Diabetes Risk And Fasting Glucose, Peitao Wu, Mary F. Feitosa, Yize Li, Michael M. Province, D C Rao, Et Al.

Open Access Publications

Smoking is a potentially causal behavioral risk factor for type 2 diabetes (T2D), but not all smokers develop T2D. It is unknown whether genetic factors partially explain this variation. We performed genome-environment-wide interaction studies to identify loci exhibiting potential interaction with baseline smoking status (ever vs. never) on incident T2D and fasting glucose (FG). Analyses were performed in participants of European (EA) and African ancestry (AA) separately. Discovery analyses were conducted using genotype data from the 50,000-single-nucleotide polymorphism (SNP) ITMAT-Broad-CARe (IBC) array in 5 cohorts from from the Candidate Gene Association Resource Consortium (n = 23,189). Replication was performed in …

Obesity Is A Risk Factor For Acute Promyelocytic Leukemia: Evidence From Population And Cross-Sectional Studies And Correlation With Flt3 Mutations And Polyunsaturated Fatty Acid Metabolism, Luca Mazzarella, Timothy J. Ley, Et Al.

Open Access Publications

No abstract provided.

Serum Urate Lowering With Allopurinol And Kidney Function In Type 1 Diabetes, Alessandro Doria, Janet B. Mcgill, Et Al.

Open Access Publications

No abstract provided.

Full-Range Space-Division Multiplexing Optical Coherence Tomography Angiography, Yongyang Huang, Jason Jerwick, Guoyan Liu, Chao Zhou

Open Access Publications

In this study, we demonstrated a full-range space-division multiplexing optical coherence tomography (FR-SDM-OCT) system. Utilizing the galvanometer-based phase modulation full-range technique, the total imaging range of FR-SDM-OCT can be extended to >20 mm in tissue, with a digitizer sampling rate of 500 MS/s and a laser sweeping rate of 100 kHz. Complex conjugate terms were suppressed in FR-SDM-OCT images with a measured rejection ratio of up to ∼46 dB at ∼1.4 mm depth and ∼30 dB at ∼19.4 mm depth. The feasibility of FR-SDM-OCT was validated by imaging Scotch tapes and human fingernails. Furthermore, we demonstrated the feasibility of FR-SDM-OCT …

Affording Autism An Early Brain Development Re-Definition, Ami Klin, Megan Micheletti, Cheryl Klaiman, Sarah Shultz, John N Constantino, Warren Jones

Open Access Publications

The national priority to advance early detection and intervention for children with autism spectrum disorder (ASD) has not reduced the late age of ASD diagnosis in the US over several consecutive Centers for Disease Control and Prevention (CDC) surveillance cohorts, with traditionally under-served populations accessing diagnosis later still. In this review, we explore a potential perceptual barrier to this enterprise which views ASD in terms that are contradicted by current science, and which may have its origins in the current definition of the condition and in its historical associations. To address this perceptual barrier, we propose a re-definition of ASD …

The Pathway To Secondary Prevention Of Alzheimer's Disease, Eric Mcdade, Martin M Bednar, H Robert Brashear, David S Miller, Paul Maruff, Christopher Randolph, Zahinoor Ismail, Maria C Carrillo, Christopher J Weber, Lisa J Bain, Ann Marie Hake

Open Access Publications

Alzheimer's disease (AD) is a continuum consisting of a preclinical stage that occurs decades before symptoms appear. As researchers make advances in investigating the continuum, the importance of developing drugs for secondary prevention is garnering increased discussion. For efficacious drug development for secondary prevention it is important to define what are the earliest biological stages of AD. The Alzheimer's Association Research Roundtable convened November 27 to 28, 2018 to focus on pre-clinical AD. This review will address the biological approach to defining pre-clinical AD, detection, identification of at-risk individuals, and lessons learned from trials such as A4 and TOMMORROW.

Harnessing Real-World Data To Inform Decision-Making: Multiple Sclerosis Partners Advancing Technology And Health Solutions (Ms Paths), Ellen M Mowry, Tammie L S Benzinger, Robert T Naismith, Et Al

Open Access Publications

No abstract provided.

Building Access To Care In Adult Sickle Cell Disease: Defining Models Of Care, Essential Components, And Economic Aspects, Julie Kanter, Allison King, Et Al.

Open Access Publications

No abstract provided.

Unique Growth Pathway In Solution−Solid−Solid Nanowires: Cubic To Hexagonal Phase Transformation, Yi-Hsin Liu, Ho-Ying Chen, Hsiu-Fang Fan, Yu-Hsien Chen, Fudong Wang

Open Access Publications

No abstract provided.

A Mobile App Directory Of Occupational Therapists Who Provide Home Modifications: Development And Preliminary Usability Evaluation, An Thi Nguyen, Emily Kling Somerville, Sandra Martina Espín-Tello, Marian Keglovits, Susan Lynn Stark

Open Access Publications

BACKGROUND: Home modifications provided by occupational therapists (OTs) are effective in improving daily activity performance and reducing fall risk among community-dwelling older adults. However, the prevalence of home modification is low. One reason is the lack of a centralized database of OTs who provide home modifications.

OBJECTIVE: This study aimed to develop and test the usability of a mobile app directory of OTs who provide home modifications in the United States.

METHODS: In phase 1, a prototype was developed by identifying OTs who provide home modifications through keyword Web searches. Referral information was confirmed by phone or email. In phase …

Association Of Sex And Apoe Ε4 With Brain Tau Deposition And Atrophy In Older Adults With Alzheimer’S Disease, Shaozhen Yan, Chaojie Zheng, Manish D. Paranjpe, Jian Li, Tammie L.S. Benzinger, Jie Lu, Yun Zhou

Open Access Publications

No abstract provided.

Human Ferroportin Mediates Proton-Coupled Active Transport Of Iron, Shuang Li, Yihu Yang, Weikai Li

Open Access Publications

No abstract provided.

Six-Year Follow-Up Of A Trial Of Antenatal Vitamin D For Asthma Reduction, Augusto A. Litonjua, Vincent J. Carey, Nancy Laranjo, Benjamin J. Stubbs, Hooman Mirzakhani, George T. O'Connor, Megan Sandel, Avraham Beigelman, Leonard B. Bacharier, Robert S. Zeiger, Michael Schatz, Bruce W. Hollis, Scott T. Weiss

Open Access Publications

No abstract provided.

Self-Reported Sleep Disturbance In Crohn’S Disease Is Not Confrmed By Objective Sleep Measures, Heba N. Iskandar, Emily E. Linan, Ami Patel, Renee Moore, Yi Lasanajak, C. Prakash Gyawali, Gregory S. Sayuk, Matthew A. Ciorba

Open Access Publications

No abstract provided.

Heavy Metals Contaminating The Environment Of A Progressive Supranuclear Palsy Cluster Induce Tau Accumulation And Cell Death In Cultured Neurons, Carolina Alquezar, Jessica B. Felix, Elizabeth Mccandlish, Brian T. Buckley, Dominique Caparros-Lefebvre, Celeste M. Karch, Lawrence I. Golbe, Aimee W. Kao

Open Access Publications

No abstract provided.

Tracking Regional Brain Growth Up To Age 13 In Children Born Term And Very Preterm, Deanne K. Thompson, Lilian G. Matthews, Bonnie Alexander, Katherine J. Lee, Claire E. Kelly, Chris L. Adamson, Rod W. Hunt, Jeanie L.Y. Cheong, Megan Spencer-Smith, Jeffrey J. Neil, Marc L. Seal, Terrie E. Inder, Lex W. Doyle, Peter J. Anderson

Open Access Publications

No abstract provided.

Generation Of Light-Producing Somatic-Transgenic Mice Using Adeno-Associated Virus Vectors, Rajvinder Karda, Jonathan D. Cooper, Et Al.

Open Access Publications

No abstract provided.

Inducible Expression Of Wnt7b Promotes Bone Formation In Aged Mice And Enhances Fracture Healing, Deye Song, Guangxu He, Fangfang Song, Zhepeng Wang, Xiaochen Liu, Lele Liao, Jiangdong Ni, Matthew J. Silva, Fanxin Long

Open Access Publications

No abstract provided.

Improved Small Blob Detection In 3d Images Using Jointly Constrained Deep Learning And Hessian Analysis, Yanzhe Xu, Teresa Wu, Fei Gao, Jennifer R. Charlton, Kevin M. Bennett

Open Access Publications

No abstract provided.

Five-Year Outcomes Of Transcatheter Or Surgical Aortic-Valve Replacement, Raj R. Makkar, Alan Zajarias, Et Al.

Open Access Publications

No abstract provided.

Two-Stage Electro–Mechanical Coupling Of A Kv Channel In Voltage-Dependent Activation, Panpan Hou, Po Wei Kang, Audrey Deyawe Kongmeneck, Nien-Du Yang, Yongfeng Liu, Jingyi Shi, Xianjin Xu, Kelli Mcfarland White, Mark A. Zaydman, Marina A. Kasimova, Guiscard Seebohm, Ling Zhong, Xiaoqin Zou, Mounir Tarek, Jianmin Cui

Open Access Publications

No abstract provided.

Live Neuron High-Content Screening Reveals Synaptotoxic Activity In Alzheimer Mouse Model Homogenates, Hao Jiang, Thomas J. Esparza, Terrance T. Kummer, Haining Zhong, Jens Rettig, David L. Brody

Open Access Publications

No abstract provided.

Remethylation Of Dnmt3a−/− Hematopoietic Cells Is Associated With Partial Correction Of Gene Dysregulation And Reduced Myeloid Skewing, Shamika Ketkar, Angela M. Verdoni, Amanda M. Smith, Celia V. Bangert, Elizabeth R. Leight, David Y. Chen, Meryl K. Brune, Nichole M. Helton, Mieke Hoock, Daniel R. George, Catrina Fronick, Robert S. Fulton, Sai Mukund Ramakrishnan, Gue Su Chang, Allegra A. Petti, David H. Spencer, Christopher A. Miller, Timothy J. Ley

Open Access Publications

No abstract provided.

Sensitivity Analysis Of Monte Carlo Model Of A Gantry-Mounted Passively Scattered Proton System, Milad Baradaran-Ghahfarokhi, Francisco Reynoso, Michael T Prusator, Baozhou Sun, Tianyu Zhao

Open Access Publications

PURPOSE: This study aimed to present guidance on the correlation between treatment nozzle and proton source parameters, and dose distribution of a passive double scattering compact proton therapy unit, known as Mevion S250.

METHODS: All 24 beam options were modeled using the MCNPX MC code. The calculated physical dose for pristine peak, profiles, and spread out Bragg peak (SOBP) were benchmarked with the measured data. Track-averaged LET (LET

RESULTS: For the physical dose distribution, the MCNPX MC model matched measurements data for all the options to within 2 mm and 2% criterion. The Mevion S250 was found to have a …

Robust Deep Learning Classification Of Adamantinomatous Craniopharyngioma From Limited Preoperative Radiographic Images, Eric W. Prince, David D. Limbrick Jr., Et Al.

Open Access Publications

No abstract provided.

Solvent/Detergent-Treated Plasma In The Management Of Pediatric Patients Who Require Replacement Of Multiple Coagulation Factors: An Open-Label, Multicenter, Post-Marketing Study, Philip C Spinella, Santiago Borasino, Jeffrey Alten

Open Access Publications

No abstract provided.

Altered Outer Hair Cell Mitochondrial And Subsurface Cisternae Connectomics Are Candidate Mechanisms For Hearing Loss In Mice, Guy Perkins, Jeong Han Lee, Seojin Park, Mincheol Kang, Maria C. Perez-Flores, Saeyeon Ju, Grady Phillips, Anna Lysakowski, Michael Anne Gratton, Ebenezer N. Yamoah

Open Access Publications

Organelle crosstalk is vital for cellular functions. The propinquity of mitochondria, ER, and plasma membrane promote regulation of multiple functions, which include intracellular Ca

Satellite Glial Cells Promote Regenerative Growth In Sensory Neurons, Oshri Avraham, Pan-Yue Deng, Sara Jones, Rejji Kuruvilla, Clay F. Semenkovich, Vitaly A. Klyachko, Valeria Cavalli

Open Access Publications

No abstract provided.

Large-Scale Targeted Sequencing Identifies Risk Genes For Neurodevelopmental Disorders, Tianyun Wang, Tychele N. Turner, Et Al.

Open Access Publications

No abstract provided.