Digital Commons Network^™

Uncovering The Complex Genetics Of Human Temperament, Igor Zwir, Javier Arnedo, Dragan M Svrakic, Sandor Rozsa, Maribel Martinez, C Robert Cloninger, Et Al

Open Access Publications

Experimental studies of learning suggest that human temperament may depend on the molecular mechanisms for associative conditioning, which are highly conserved in animals. The main genetic pathways for associative conditioning are known in experimental animals, but have not been identified in prior genome-wide association studies (GWAS) of human temperament. We used a data-driven machine learning method for GWAS to uncover the complex genotypic-phenotypic networks and environmental interactions related to human temperament. In a discovery sample of 2149 healthy Finns, we identified sets of single-nucleotide polymorphisms (SNPs) that cluster within particular individuals (i.e., SNP sets) regardless of phenotype. Second, we identified …

Cysteine Residues Contribute To The Dimerization And Enzymatic Activity Of Human Nuclear Dutp Nucleotidohydrolase (Ndut)., Shawna M Rotoli, Julia L Jones, Salvatore J Caradonna

Rowan-Virtua School of Osteopathic Medicine Departmental Research

dUTPase is an enzyme found in all organisms that have thymine as a constituent of DNA. Through evolution, humans have two major isoforms of dUTPase: a mitochondrial (mDut) and a nuclear (nDut) isoform. The nuclear isoform of dUTPase is a 164-amino-acids-long protein containing three cysteine residues. nDut's starting methionine is post-translationally cleaved, leaving four unique amino acids on its amino-terminus including one cysteine residue (C3). These are not present in the mitochondrial isoform (mDut). Using mass spectrometry analyses of recombinant dUTPase constructs, we have discovered an intermolecular disulfide bridge between cysteine-3 of each nDut monomer. We have found that these …

Global Gray Matter Morphometry Differences Between Children With Reading Disability, Adhd, And Comorbid Reading Disability/Adhd., Audreyana C Jagger-Rickels, Michelle Y Kibby, Jordan M Constance

Publications

Extensive, yet disparate, research exists elucidating structural anomalies in individuals with Reading Disability (RD) or ADHD. Despite ADHD and RD being highly comorbid, minimal research has attempted to determine shared patterns of morphometry between these disorders. In addition, there is no published research examining the morphometry of comorbid RD and ADHD (RD/ADHD). Hence, we conducted voxel-based morphometry on the MRI scans of 106 children, ages 8-12 years, with RD, ADHD, or RD/ADHD, and typically developing controls. We found right caudate and superior frontal regions in both RD and ADHD, along with areas specific to RD and to ADHD that are …

Global Gray Matter Morphometry Differences Between Children With Reading Disability, Adhd, And Comorbid Reading Disability/Adhd., Audreyana C Jagger-Rickels, Michelle Y Kibby, Jordan M Constance

Publications

Extensive, yet disparate, research exists elucidating structural anomalies in individuals with Reading Disability (RD) or ADHD. Despite ADHD and RD being highly comorbid, minimal research has attempted to determine shared patterns of morphometry between these disorders. In addition, there is no published research examining the morphometry of comorbid RD and ADHD (RD/ADHD). Hence, we conducted voxel-based morphometry on the MRI scans of 106 children, ages 8-12 years, with RD, ADHD, or RD/ADHD, and typically developing controls. We found right caudate and superior frontal regions in both RD and ADHD, along with areas specific to RD and to ADHD that are …

White Matter Diffusion Alterations Precede Symptom Onset In Autosomal Dominant Alzheimer's Disease, Miguel Ángel Araque Caballero, Tammie Benzinger, Anne M Fagan, Randall J Bateman, Celeste Karch, John C Morris, Jason Hassenstab, Et Al.

2010-2019 OA Pubs

White matter alterations are present in the majority of patients with Alzheimer's disease type dementia. However, the spatiotemporal pattern of white matter changes preceding dementia symptoms in Alzheimer's disease remains unclear, largely due to the inherent diagnostic uncertainty in the preclinical phase and increased risk of confounding age-related vascular disease and stroke in late-onset Alzheimer's disease. In early-onset autosomal-dominantly inherited Alzheimer's disease, participants are destined to develop dementia, which provides the opportunity to assess brain changes years before the onset of symptoms, and in the absence of ageing-related vascular disease. Here, we assessed mean diffusivity alterations in the white matter …

Investigating The Effect Of Wearing The Hijab: Perception Of Facial Attractiveness By Emirati Muslim Women Living In Their Native Muslim Country, Mercedes Sheen, Hajar Aman Key Yekani, Timothy R. Jordan

All Works

© 2018 Sheen et al. This is an open access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited. The Hijab and other forms of Islamic veiling are important social, cultural, and religious symbols that are central to the identity of millions of Muslim women across the world. However, despite the large body of literature that exists on the political and socio-cultural aspects of Islamic veiling, little is known about how the appearance of women wearing the hijab is perceived …

Dietary Intake And Physical Activity Assessment: Current Tools, Techniques, And Technologies For Use In Adult Populations., Holly L. Mcclung, Lauren T. Ptomey, Robin P. Shook, Anju Aggarwal, Anna M. Gorczyca, Edward S. Sazonov, Katie Becofsky, Rick Weiss, Sai Krupa Das

Manuscripts, Articles, Book Chapters and Other Papers

Accurate assessment of dietary intake and physical activity is a vital component for quality research in public health, nutrition, and exercise science. However, accurate and consistent methodology for the assessment of these components remains a major challenge. Classic methods use self-report to capture dietary intake and physical activity in healthy adult populations. However, these tools, such as questionnaires or food and activity records and recalls, have been shown to underestimate energy intake and expenditure as compared with direct measures like doubly labeled water. This paper summarizes recent technological advancements, such as remote sensing devices, digital photography, and multisensor devices, which …

Recurrence Of Nephrotic Syndrome Following Kidney Transplantation Is Associated With Initial Native Kidney Biopsy Findings., Jonathan H. Pelletier, Karan R. Kumar, Rachel Engen, Adam Bensimhon, Jennifer D. Varner, Michelle N. Rheault, Tarak Srivastava, Caroline Straatmann, Cynthia Silva, T Keefe Davis, Scott E. Wenderfer, Keisha Gibson, David Selewski, John Barcia, Patricia Weng, Christoph Licht, Natasha Jawa, Mahmoud Kallash, John W. Foreman, Delbert R. Wigfall, Annabelle N. Chua, Eileen Chambers, Christoph P. Hornik, Eileen D. Brewer, Shashi K. Nagaraj, Larry A. Greenbaum, Rasheed A. Gbadegesin

Manuscripts, Articles, Book Chapters and Other Papers

BACKGROUND AND OBJECTIVES: Steroid-resistant nephrotic syndrome (SRNS) due to focal segmental glomerulosclerosis (FSGS) and minimal change disease (MCD) is a leading cause of end-stage kidney disease in children. Recurrence of primary disease following transplantation is a major cause of allograft loss. The clinical determinants of disease recurrence are not completely known. Our objectives were to determine risk factors for recurrence of FSGS/MCD following kidney transplantation and factors that predict response to immunosuppression following recurrence.

METHODS: Multicenter study of pediatric patients with kidney transplants performed for ESKD due to SRNS between 1/2006 and 12/2015. Demographics, clinical course, and biopsy data were …

Wearable Cardioverter-Defibrillator After Myocardial Infarction, Jeffrey E. Olgin, Mark J. Pletcher, Eric Vittinghoff, Jerzy Wranicz, Rajesh Malik, Daniel P. Morin, Steven Zweibel, Alfred E. Buxton, Claude S. Elayi, Eugene H. Chung, Eric Rashba, Martin Borggrefe, Trisha F Hue, Carol Maguire, Feng Lin, Joel A. Simon, Stephen Hulley, Byron K. Lee, Vest Investigators

Gill Heart & Vascular Institute Faculty Publications

BACKGROUND

Despite the high rate of sudden death after myocardial infarction among patients with a low ejection fraction, implantable cardioverter–defibrillators are contraindicated until 40 to 90 days after myocardial infarction. Whether a wearable cardioverter–defibrillator would reduce the incidence of sudden death during this high-risk period is unclear.

METHODS

We randomly assigned (in a 2:1 ratio) patients with acute myocardial infarction and an ejection fraction of 35% or less to receive a wearable cardioverter–defibrillator plus guideline-directed therapy (the device group) or to receive only guideline-directed therapy (the control group). The primary outcome was the composite of sudden death or death from …

Effect Of Algorithm-Based Therapy Vs Usual Care On Clinical Success And Serious Adverse Events In Patients With Staphylococcal Bacteremia: A Randomized Clinical Trial, Thomas L. Holland, Issam Raad, Helen W. Boucher, Deverick J. Anderson, Sara E. Cosgrove, P S. Aycock, John W. Baddley, Anne-Marie Chaftari, Shein-Chung Chow, Vivian H. Chu, Manuela Carugati, Paul Cook, G R. Corey, Anna L. Crowley, Jennifer Daly, Jiezhun Gu, Ray Hachem, James Horton, Timothy C. Jenkins, Donald Levine, Jose M. Miro, Juan M. Pericas, Paul Riska, Zachary Rubin, Mark E. Rupp, John Schrank, Matthew Sims, Dannah Wray, Marcus Zervos, Vance G. Fowler

Infectious Diseases Articles

Importance: The appropriate duration of antibiotics for staphylococcal bacteremia is unknown.

Objective: To test whether an algorithm that defines treatment duration for staphylococcal bacteremia vs standard of care provides noninferior efficacy without increasing severe adverse events.

Design, Setting, and Participants: A randomized trial involving adults with staphylococcal bacteremia was conducted at 16 academic medical centers in the United States (n = 15) and Spain (n = 1) from April 2011 to March 2017. Patients were followed up for 42 days beyond end of therapy for those with Staphylococcus aureus and 28 days for those with coagulase-negative staphylococcal bacteremia. Eligible patients …

New Functions For The Proprioceptive System In Skeletal Biology, Ronen Blecher, Lia Heinemann-Yerushalmi, Eran Assaraf, Nitzan Konstantin, Jens R. Chapman, Timothy C. Cope, Guy S. Bewick, Robert W. Banks, Elazar Zelzer

Neuroscience, Cell Biology & Physiology Faculty Publications

Muscle spindles and Golgi tendon organs (GTOs) are two types of sensory receptors that respond to changes in length or tension of skeletal muscles. These mechanosensors have long been known to participate in both proprioception and stretch reflex. Here, we present recent findings implicating these organs in maintenance of spine alignment as well as in realignment of fractured bones. These discoveries have been made in several mouse lines lacking functional mechanosensors in part or completely. In both studies, the absence of functional spindles and GTOs produced a more severe phenotype than that of spindles alone. Interestingly, the spinal curve phenotype, …

Cpx-351 (Cytarabine And Daunorubicin) Liposome For Injection Versus Conventional Cytarabine Plus Daunorubicin In Older Patients With Newly Diagnosed Secondary Acute Myeloid Leukemia, Jeffrey E Lancet, Geoffrey L Uy, Et Al

Open Access Publications

Purpose CPX-351 is a dual-drug liposomal encapsulation of cytarabine and daunorubicin that delivers a synergistic 5:1 drug ratio into leukemia cells to a greater extent than normal bone marrow cells. Prior clinical studies demonstrated a sustained drug ratio and exposure in vivo and prolonged survival versus standard-of-care cytarabine plus daunorubicin chemotherapy (7+3 regimen) in older patients with newly diagnosed secondary acute myeloid leukemia (sAML). Patients and Methods In this open-label, randomized, phase III trial, 309 patients age 60 to 75 years with newly diagnosed high-risk/sAML received one to two induction cycles of CPX-351 or 7+3 followed by consolidation therapy with …

Curriculum For Neurogastroenterology And Motility Training: A Report From The Joint Anms-Esnm Task Force, C P Gyawali, Et Al

Open Access Publications

Although neurogastroenterology and motility (NGM) disorders are some of the most frequent disorders encountered by practicing gastroenterologists, a structured competency-based training curriculum developed by NGM experts is lacking. The American Neurogastroenterology and Motility Society (ANMS) and the European Society of Neurogastroenterology and Motility (ESNM) jointly evaluated the components of NGM training in North America and Europe. Eleven training domains were identified within NGM, consisting of functional gastrointestinal disorders, visceral hypersensitivity and pain pathways, motor disorders within anatomic areas (esophagus, stomach, small bowel and colon, anorectum), mucosal disorders (gastro-esophageal reflux disease, other mucosal disorders), consequences of systemic disease, consequences of therapy …

Curriculum For Neurogastroenterology And Motility Training: A Report From The Joint Anms-Esnm Task Force., C P Gyawali, E Savarino, A Lazarescu, S Bor, A Patel, R Dickman, A Pressman, A M Drewes, John Rosen, V Drug, M Saps, L Novais, M Vazquez-Roque, D Pohl, M A L Van Tilburg, A Smout, S Yoon, J Pandolfino, G Farrugia, G Barbara, S Roman

Manuscripts, Articles, Book Chapters and Other Papers

Although neurogastroenterology and motility (NGM) disorders are some of the most frequent disorders encountered by practicing gastroenterologists, a structured competency-based training curriculum developed by NGM experts is lacking. The American Neurogastroenterology and Motility Society (ANMS) and the European Society of Neurogastroenterology and Motility (ESNM) jointly evaluated the components of NGM training in North America and Europe. Eleven training domains were identified within NGM, consisting of functional gastrointestinal disorders, visceral hypersensitivity and pain pathways, motor disorders within anatomic areas (esophagus, stomach, small bowel and colon, anorectum), mucosal disorders (gastro-esophageal reflux disease, other mucosal disorders), consequences of systemic disease, consequences of therapy …

The Association Between Subclass-Specific Igg Fc N-Glycosylation Profiles And Hypertension In The Uygur, Kazak, Kirgiz, And Tajik Populations, J. N. Liu, Mamatyusupu Dolikun, Jerko Štambuk, Irena Trbojević-Akmačić, J. Zhang, Hao Wang, D. Q. Zheng, X. Y. Zhang, H. L. Peng, Z. Y. Zhao, D. Liu, Yang Sun, Q. Sun, Q. H. Li, J. X. Zhang, Ming Sun, W. J. Cao, Ana Momčilović, Genadij Razdorov, L. J. Wu, Alyce Russell, Y. X. Wang, Song Manshu, Gordan Lauc, Wei Wang

Research outputs 2014 to 2021

Hypertension results from the interaction of genetic and acquired factors. IgG occurs in the form of different subclasses, of which the effector functions show significant variation. The detailed differences between the glycosylation profiles of the individual IgG subclasses may be lost in a profiling method for total IgG N-glycosylation. In this study, subclass-specific IgG Fc glycosylation profile was investigated in the four northwestern Chinese minority populations, namely, Uygur (UIG), Kazak (KZK), Kirgiz (KGZ), and Tajik (TJK), composed of 274 hypertensive patients and 356 healthy controls. The results showed that ten directly measured IgG N-glycan traits (i.e., IgG1G0F, IgG2G0F, IgG2G1FN, IgG2G1FS, …

A Narrative Review On Contrast-Enhanced Ultrasound In Aortic Endograft Endoleak Surveillance., Sriharsha Gummadi, John R. Eisenbrey, Andrej Lyshchik

Department of Radiology Faculty Papers

Endovascular repair of abdominal aortic aneurysms have been performed successfully since 1991. However, 20% to 50% of these patients may develop an endoleak or continued aneurysmal sac expansion or perfusion despite stent graft coverage. Current recommendations suggest lifelong surveillance with computed tomographic angiography (CTA) at least 1 month after intervention and yearly after that. In select patients with a stable aneurysm sac on computed tomography performed 1 year after treatment, future screening could be performed with ultrasonography. However, color Doppler ultrasound can fail to detect as many as 31% of endoleaks. Contrast-enhanced ultrasound (CEUS) provides an alternative approach to excluded …

Pretty Peachy., Li-Anne Lim, Basil K. Williams, Carol L. Shields

Wills Eye Hospital Papers

No abstract provided.

Large-Scale Social And Behavior Change Communication Interventions Have Sustained Impacts On Infant And Young Child Feeding Knowledge And Practices: Results Of A 2-Year Follow-Up Study In Bangladesh, Sunny S. Kim, Phuong Hong Nguyen, Lan Mai Tran, Tina Sanghvi, Zeba Mahmud, Mohammad Raisul Haque, Kaosar Afsana, Edward A. Frongillo Jr., Marie T. Ruel, Purnima Menon

Faculty Publications

Background: Sustained improvements in infant and young child feeding (IYCF) require continued implementation of effective interventions. From 2010-2014, Alive & Thrive (A&T) provided intensive interpersonal counseling (IPC), community mobilization (CM), and mass media (MM) in Bangladesh, demonstrating impact on IYCF practices. Since 2014, implementation has been continued and scaled up by national partners with support from other donors and with modifications such as added focus on maternal nutrition and reduced program intensity. Objective: We assessed changes in intervention exposure and IYCF knowledge and practices in the intensive (IPC + CM + MM) compared with nonintensive areas (standard nutrition counseling + …

N-Terminal Domain Of Human Uracil Dna Glycosylase (Hung2) Promotes Targeting To Uracil Sites Adjacent To Ssdna-Dsdna Junctions, Brian P Weiser, Gaddiel Rodriguez, Philip A Cole, James T Stivers

Rowan-Virtua School of Osteopathic Medicine Departmental Research

The N-terminal domain (NTD) of nuclear human uracil DNA glycosylase (hUNG2) assists in targeting hUNG2 to replication forks through specific interactions with replication protein A (RPA). Here, we explored hUNG2 activity in the presence and absence of RPA using substrates with ssDNA-dsDNA junctions that mimic structural features of the replication fork and transcriptional R-loops. We find that when RPA is tightly bound to the ssDNA overhang of junction DNA substrates, base excision by hUNG2 is strongly biased toward uracils located 21 bp or less from the ssDNA-dsDNA junction. In the absence of RPA, hUNG2 still showed an 8-fold excision bias …

Study Protocol Of "Our Choice": A Randomized Controlled Trial Of The Integration Of Safer Conception Counseling To Transform Hiv Family Planning Services In Uganda., Kathy Goggin, Emily A. Hurley, Jolly Beyeza-Kashesya, Violet Gwokyalya, Sarah Finocchario-Kessler, Josephine Birungi, Deborah Mindry, Rhoda K Wanyenze, Glenn J Wagner

Manuscripts, Articles, Book Chapters and Other Papers

BACKGROUND: About 40% of HIV-positive women in sub-Saharan Africa become pregnant post-diagnosis. Despite about half of their pregnancies being planned, safer conception methods (SCM) are underutilized among serodiscordant couples, partially due to the fact that safer conception counseling (SCC) has not been integrated into routine HIV family planning (FP) services.

METHODS: Our Choice is a comprehensive FP intervention that promotes unbiased childbearing consultations to ensure clients receive SCC or contraception services to achieve their desired reproductive goals. The intervention is theoretically grounded and has demonstrated preliminarily feasibility and acceptance through pilot testing. This three-arm cluster randomized controlled trial compares two …

Identification Of Susceptibility Pathways For The Role Of Chromosome 15q25.1 In Modifying Lung Cancer Risk., Xuemei Ji, Yohan Bossé, Maria Teresa Landi, Jiang Gui, Xiangjun Xiao, David Qian, Philippe Joubert, Maxime Lamontagne, Yafang Li, Ivan Gorlov, Mariella De Biasi, Younghun Han, Olga Gorlova, Rayjean J Hung, Xifeng Wu, James Mckay, Xuchen Zong, Robert Carreras-Torres, David C Christiani, Neil Caporaso, Mattias Johansson, Geoffrey Liu, Stig E Bojesen, Loic Le Marchand, Demetrios Albanes, Heike Bickeböller, Melinda C Aldrich, William S Bush, Adonina Tardon, Gad Rennert, Chu Chen, M Dawn Teare, John K Field, Lambertus A Kiemeney, Philip Lazarus, Aage Haugen, Stephen Lam, Matthew B Schabath, Angeline S Andrew, Hongbing Shen, Yun-Chul Hong, Jian-Min Yuan, Pier A Bertazzi, Angela C Pesatori, Yuanqing Ye, Nancy Diao, Li Su, Ruyang Zhang, Yonathan Brhane, Natasha Leighl, Jakob S Johansen, Anders Mellemgaard, Walid Saliba, Christopher Haiman, Lynne Wilkens, Ana Fernandez-Somoano, Guillermo Fernandez-Tardon, Erik H F M Van Der Heijden, Jin Hee Kim, Juncheng Dai, Zhibin Hu, Michael P A Davies, Michael W Marcus, Hans Brunnström, Jonas Manjer, Olle Melander, David C Muller, Kim Overvad, Antonia Trichopoulou, Rosario Tumino, Jennifer Doherty, Gary E Goodman, Angela Cox, Fiona Taylor, Penella Woll, Irene Brüske, Judith Manz, Thomas Muley, Angela Risch, Albert Rosenberger, Kjell Grankvist, Mikael Johansson, Frances Shepherd, Ming-Sound Tsao, Susanne M Arnold, Eric B Haura, Ciprian Bolca, Ivana Holcatova, Vladimir Janout, Milica Kontic, Jolanta Lissowska, Anush Mukeria, Simona Ognjanovic, Tadeusz M Orlowski, Ghislaine Scelo, Beata Swiatkowska, David Zaridze, Per Bakke, Vidar Skaug, Shanbeh Zienolddiny, Eric J Duell, Lesley M Butler, Woon-Puay Koh, Yu-Tang Gao, Richard Houlston, John Mclaughlin, Victoria Stevens, David C Nickle, Ma'en Obeidat, Wim Timens, Bin Zhu, Lei Song, María Soler Artigas, Martin D Tobin, Louise V Wain, Fangyi Gu, Jinyoung Byun, Ahsan Kamal, Dakai Zhu, Rachel F Tyndale, Wei-Qi Wei, Stephen Chanock, Paul Brennan, Christopher I Amos

Articles, Abstracts, and Reports

Genome-wide association studies (GWAS) identified the chromosome 15q25.1 locus as a leading susceptibility region for lung cancer. However, the pathogenic pathways, through which susceptibility SNPs within chromosome 15q25.1 affects lung cancer risk, have not been explored. We analyzed three cohorts with GWAS data consisting 42,901 individuals and lung expression quantitative trait loci (eQTL) data on 409 individuals to identify and validate the underlying pathways and to investigate the combined effect of genes from the identified susceptibility pathways. The KEGG neuroactive ligand receptor interaction pathway, two Reactome pathways, and 22 Gene Ontology terms were identified and replicated to be significantly associated …

Identification Of Susceptibility Pathways For The Role Of Chromosome 15q25.1 In Modifying Lung Cancer Risk, Xuemei Ji, Yohan Bossé, Maria Teresa Landi, Jiang Gui, Xiangjun Xiao, David Qian, Philippe Joubert Joubert, Maxime Lamontagne, Yafang Li, Ivan Gorlov, Mariella De Biasi, Younghun Han, Olga Gorlova, Rayjean J. Hung, Xifeng Wu, James Mckay, Xuchen Zong, Robert Carreras-Torres, David C. Christiani, Neil Caporaso, Mattias Johansson, Geoffrey Liu, Stig E. Bojesen, Loic Le Marchand, Demetrios Albanes, Heike Bickeböller, Melinda C. Aldrich, William S. Bush, Adonina Tardon, Gad Rennert, Susanne M. Arnold

Markey Cancer Center Faculty Publications

Genome-wide association studies (GWAS) identified the chromosome 15q25.1 locus as a leading susceptibility region for lung cancer. However, the pathogenic pathways, through which susceptibility SNPs within chromosome 15q25.1 affects lung cancer risk, have not been explored. We analyzed three cohorts with GWAS data consisting 42,901 individuals and lung expression quantitative trait loci (eQTL) data on 409 individuals to identify and validate the underlying pathways and to investigate the combined effect of genes from the identified susceptibility pathways. The KEGG neuroactive ligand receptor interaction pathway, two Reactome pathways, and 22 Gene Ontology terms were identified and replicated to be significantly associated …

Cardiovascular Consequences Of Katp Overactivity In Cantu Syndrome, Yan Huang, Conor Mcclenaghan, Theresa M Harter, Kristina Hinman, Carmen M Halabi, Scot J Matkovich, Haixia Zhang, G Schuyler Brown, Robert P Mecham, Sarah K England, Attila Kovacs, Maria S Remedi, Colin G Nichols

Open Access Publications

Cantu syndrome (CS) is characterized by multiple vascular and cardiac abnormalities including vascular dilation and tortuosity, systemic hypotension, and cardiomegaly. The disorder is caused by gain-of-function (GOF) mutations in genes encoding pore-forming (Kir6.1, KCNJ8) and accessory (SUR2, ABCC9) ATP-sensitive potassium (KATP) channel subunits. However, there is little understanding of the link between molecular dysfunction and the complex pathophysiology observed, and there is no known treatment, in large part due to the lack of appropriate preclinical disease models in which to test therapies. Notably, expression of Kir6.1 and SUR2 does not fully overlap, and the relative contribution of KATP GOF in …

Identification Of Enhanced Ifn-Γ Signaling In Polyarticular Juvenile Idiopathic Arthritis With Mass Cytometry, Allison A Throm, Halima Moncrieffe, Amir B Orandi, Jeanette T Pingel, Theresa L Geurs, Hannah L Miller, Allyssa L Daugherty, Olga N Malkova, Daniel J Lovell, Susan D Thompson, Alexei A Grom, Megan A Cooper, Stephen T Oh, Anthony R French

Open Access Publications

Polyarticular juvenile idiopathic arthritis (JIA) is among the most challenging of the JIA subtypes to treat. Even with current biologic therapies, the disease remains difficult to control in a substantial subset of patients, highlighting the need for new therapies. The aim of this study was to use the high dimensionality afforded by mass cytometry with phospho-specific antibodies to delineate signaling abnormalities in immune cells from treatment-naive polyarticular JIA patients. Peripheral blood mononuclear cells were isolated from 17 treatment-naive polyarticular JIA patients, 10 of the patients after achieving clinical remission, and 19 healthy controls. Samples were stimulated for 15 minutes with …

The Effect Of E-Book Vocabulary Instruction On Spanish-English Speaking Children, Carla Wood, Lisa Fitton, Yaacov Petscher, Estrella Rodriguez, Gretchen Sunderman, Taehyeong Lim

Faculty Publications

Purpose: This study aimed to examine the effect of an intensive vocabulary intervention embedded in e-books on the vocabulary skills of young Spanish-English speaking English learners (ELs) from low-socioeconomic status backgrounds. Method: Children (N = 288) in kindergarten and 1st grade were randomly assigned to treatment and read-only conditions. All children received e-book readings approximately 3 times a week for 10-20 weeks using the same books. Children in the treatment condition received e-books supplemented with vocabulary instruction that included scaffolding through explanations in Spanish, repetition in English, checks for understanding, and highlighted morphology. Results: There was a main effect of …

Structure Of The Mouse Trpc4 Ion Channel, Jingjing Duan, Jian Li, Bo Zeng, Gui-Lan Chen, Xiaogang Peng, Yixing Zhang, Jianbin Wang, David E. Clapham, Zongli Li, Jin Zhang

Molecular and Cellular Biochemistry Faculty Publications

Members of the transient receptor potential (TRP) ion channels conduct cations into cells. They mediate functions ranging from neuronally mediated hot and cold sensation to intracellular organellar and primary ciliary signaling. Here we report a cryo-electron microscopy (cryo-EM) structure of TRPC4 in its unliganded (apo) state to an overall resolution of 3.3 Å. The structure reveals a unique architecture with a long pore loop stabilized by a disulfide bond. Beyond the shared tetrameric six-transmembrane fold, the TRPC4 structure deviates from other TRP channels with a unique cytosolic domain. This unique cytosolic N-terminal domain forms extensive aromatic contacts with the TRP …

An Eqtl Landscape Of Kidney Tissue In Human Nephrotic Syndrome., Christopher E. Gillies, Rosemary Putler, Rajasree Menon, Edgar Otto, Kalyn Yasutake, Viji Nair, Paul Hoover, David Lieb, Shuqiang Li, Sean Eddy, Damian Fermin, Michelle T. Mcnulty, Nephrotic Syndrome Study Network (Neptune), Nir Hacohen, Krzysztof Kiryluk, Matthias Kretzler, Xiaoquan Wen, Matthew G. Sampson, Tarak Srivastava

Manuscripts, Articles, Book Chapters and Other Papers

Expression quantitative trait loci (eQTL) studies illuminate the genetics of gene expression and, in disease research, can be particularly illuminating when using the tissues directly impacted by the condition. In nephrology, there is a paucity of eQTL studies of human kidney. Here, we used whole-genome sequencing (WGS) and microdissected glomerular (GLOM) and tubulointerstitial (TI) transcriptomes from 187 individuals with nephrotic syndrome (NS) to describe the eQTL landscape in these functionally distinct kidney structures. Using MatrixEQTL, we performed cis-eQTL analysis on GLOM (n = 136) and TI (n = 166). We used the Bayesian "Deterministic Approximation of Posteriors" (DAP) to fine-map …

The Antepartum Stillbirth Syndrome: Risk Factors And Pregnancy Conditions Identified From The Intergrowth-21, J E Hirst, J Villar, C G Victora, A T Papageorghiou, D Finkton, F C Barros, M G Gravett, F Giuliani, M Purwar, I O Frederick, R Pang, L Cheikh Ismail, A Lambert, W Stones, Y A Jaffer, D G Altman, J A Noble, E O Ohuma, S H Kennedy, Z A Bhutta

Articles, Abstracts, and Reports

OBJECTIVES: To identify risk factors for antepartum stillbirth, including fetal growth restriction, among women with well-dated pregnancies and access to antenatal care.

DESIGN: Population-based, prospective, observational study.

SETTING: Eight international urban populations.

POPULATION: Pregnant women and their babies enrolled in the Newborn Cross-Sectional Study of the INTERGROWTH-21

METHODS: Cox proportional hazard models were used to compare risks among antepartum stillborn and liveborn babies.

MAIN OUTCOME MEASURES: Antepartum stillbirth was defined as any fetal death after 16 weeks' gestation before the onset of labour.

RESULTS: Of 60 121 babies, 553 were stillborn (9.2 per 1000 births), of which 445 were antepartum …

Engagement Of Husbands In A Maternal Nutrition Program Substantially Contributed To Greater Intake Of Micronutrient Supplements And Dietary Diversity During Pregnancy: Results Of A Cluster-Randomized Program Evaluation In Bangladesh, Phuong Hong Nguyen, Edward A. Frongillo Jr., Tina Sanghvi, Gargi Wable, Zeba Mahmud, Lan Mai Tran, Bachera Aktar, Kaosar Afsana, Silvia Alayon, Marie T. Ruel, Purnima Menon

Faculty Publications

Background:

Although husbands may provide support during pregnancy, limited evidence exists on how to promote husbands' engagement and what impact it has. Alive & Thrive integrated nutrition-focused interventions, targeting both wives and husbands, through an existing Maternal, Neonatal, and Child Health (MNCH) platform in Bangladesh.

Objectives:

We evaluated 1) the impact of a nutrition-focused MNCH program, compared with the standard MNCH program, on husbands' behavioral determinants (i.e., awareness, knowledge, self-efficacy) and support to wives to adopt optimal nutrition practices and 2) how much of the previously documented impact on women's supplement intake and dietary diversity was explained by husbands' behavioral …

Non-Mumps Viral Parotitis During The 2014-2015 Influenza Season In The United States., Lina I. Elbadawi, Pamela Talley, Melissa A. Rolfes, Alexander J. Millman, Erik Reisdorf, Natalie A. Kramer, John R. Barnes, Lenee Blanton, Jaime Christensen, Stefanie Cole, Tonya Danz, John J. Dreisig, Rebecca Garten, Thomas Haupt, Beth M. Isaac, Mary Anne Jackson, Anna Kocharian, Daniel Leifer, Karen Martin, Lisa Mchugh, Rebecca J. Mcnall, Jennifer Palm, Kay W. Radford, Sara Robinson, Jennifer B. Rosen, Senthilkumar K. Sakthivel, Peter Shult, Anna K. Strain, George Turabelidze, Lori A. Webber, Meghan Pearce Weinberg, David E. Wentworth, Brett L. Whitaker, Lyn Finelli, Michael A. Jhung, Ruth Lynfield, Jeffrey P. Davis

Manuscripts, Articles, Book Chapters and Other Papers

Background: During the 2014-2015 US influenza season, 320 cases of non-mumps parotitis (NMP) among residents of 21 states were reported to the Centers for Disease Control and Prevention (CDC). We conducted an epidemiologic and laboratory investigation to determine viral etiologies and clinical features of NMP during this unusually large occurrence.

Methods: NMP was defined as acute parotitis or other salivary gland swelling of >2 days duration in a person with a mumps- negative laboratory result. Using a standardized questionnaire, we collected demographic and clinical information. Buccal samples were tested at the CDC for selected viruses, including mumps, influenza, human parainfluenza …