Digital Commons Network^™

Development Of A Standard Of Care For Patients With Valosin-Containing Protein Associated Multisystem Proteinopathy, Manisha Korb, Nupur Ghoshal, Conrad Weihl, Et Al.

2020-Current year OA Pubs

Valosin-containing protein (VCP) associated multisystem proteinopathy (MSP) is a rare inherited disorder that may result in multisystem involvement of varying phenotypes including inclusion body myopathy, Paget's disease of bone (PDB), frontotemporal dementia (FTD), parkinsonism, and amyotrophic lateral sclerosis (ALS), among others. An international multidisciplinary consortium of 40+ experts in neuromuscular disease, dementia, movement disorders, psychology, cardiology, pulmonology, physical therapy, occupational therapy, speech and language pathology, nutrition, genetics, integrative medicine, and endocrinology were convened by the patient advocacy organization, Cure VCP Disease, in December 2020 to develop a standard of care for this heterogeneous and under-diagnosed disease. To achieve this goal, …

Common Genetic Variants Contribute To Risk Of Transposition Of The Great Arteries., Doris Škorić-Milosavljević, Rafik Tadros, Fernanda M Bosada, Federico Tessadori, Jan Hendrik Van Weerd, Odilia I Woudstra, Fleur V Y Tjong, Najim Lahrouchi, Fanny Bajolle, Heather J Cordell, A J Agopian, Gillian M Blue, Daniela Q C M Barge-Schaapveld, Marc Gewillig, Christoph Preuss, Elisabeth M Lodder, Phil Barnett, Aho Ilgun, Leander Beekman, Karel Van Duijvenboden, Regina Bokenkamp, Martina Müller-Nurasyid, Hubert W Vliegen, Thelma C Konings, Joost P Van Melle, Arie P J Van Dijk, Roland R J Van Kimmenade, Jolien W Roos-Hesselink, Gertjan T Sieswerda, Folkert Meijboom, Hashim Abdul-Khaliq, Felix Berger, Sven Dittrich, Marc-Phillip Hitz, Julia Moosmann, Frank-Thomas Riede, Stephan Schubert, Pilar Galan, Mark Lathrop, Hans M Munter, Ammar Al-Chalabi, Christopher E Shaw, Pamela J Shaw, Karen E Morrison, Jan H Veldink, Leonard H Van Den Berg, Sylvia Evans, Marcelo A Nobrega, Ivy Aneas, Milena Radivojkov-Blagojević, Thomas Meitinger, Erwin Oechslin, Tapas Mondal, Lynn Bergin, John F Smythe, Luis Altamirano-Diaz, Jane Lougheed, Berto J Bouma, Marie-A Chaix, Jennie Kline, Anne S Bassett, Gregor Andelfinger, Roel L F Van Der Palen, Patrice Bouvagnet, Sally-Ann B Clur, Jeroen Breckpot, Wilhelmina S Kerstjens-Frederikse, David S Winlaw, Ulrike M M Bauer, Seema Mital, Elizabeth Goldmuntz, Bernard Keavney, Damien Bonnet, Barbara J Mulder, Michael W T Tanck, Jeroen Bakkers, Vincent M Christoffels, Cornelis J Boogerd, Alex V Postma, Connie R Bezzina

Faculty Research 2022

RATIONALE: Dextro-transposition of the great arteries (D-TGA) is a severe congenital heart defect which affects approximately 1 in 4,000 live births. While there are several reports of D-TGA patients with rare variants in individual genes, the majority of D-TGA cases remain genetically elusive. Familial recurrence patterns and the observation that most cases with D-TGA are sporadic suggest a polygenic inheritance for the disorder, yet this remains unexplored.

OBJECTIVE: We sought to study the role of common single nucleotide polymorphisms (SNPs) in risk for D-TGA.

METHODS AND RESULTS: We conducted a genome-wide association study in an international set of 1,237 patients …

Common Genetic Variants Contribute To Risk Of Transposition Of The Great Arteries, Doris Škorić-Milosavljević, Rafik Tadros, Fernanda M Bosada, Federico Tessadori, Jan Hendrik Van Weerd, Odilia I Woudstra, Fleur V Y Tjong, Najim Lahrouchi, Fanny Bajolle, Heather J Cordell, A J Agopian, Gillian M Blue, Daniela Q C M Barge-Schaapveld, Marc Gewillig, Christoph Preuss, Elisabeth M Lodder, Phil Barnett, Aho Ilgun, Leander Beekman, Karel Van Duijvenboden, Regina Bokenkamp, Martina Müller-Nurasyid, Hubert W Vliegen, Thelma C Konings, Joost P Van Melle, Arie P J Van Dijk, Roland R J Van Kimmenade, Jolien W Roos-Hesselink, Gertjan T Sieswerda, Folkert Meijboom, Hashim Abdul-Khaliq, Felix Berger, Sven Dittrich, Marc-Phillip Hitz, Julia Moosmann, Frank-Thomas Riede, Stephan Schubert, Pilar Galan, Mark Lathrop, Hans M Munter, Ammar Al-Chalabi, Christopher E Shaw, Pamela J Shaw, Karen E Morrison, Jan H Veldink, Leonard H Van Den Berg, Sylvia Evans, Marcelo A Nobrega, Ivy Aneas, Milena Radivojkov-Blagojević, Thomas Meitinger, Erwin Oechslin, Tapas Mondal, Lynn Bergin, John F Smythe, Luis Altamirano-Diaz, Jane Lougheed, Berto J Bouma, Marie-A Chaix, Jennie Kline, Anne S Bassett, Gregor Andelfinger, Roel L F Van Der Palen, Patrice Bouvagnet, Sally-Ann B Clur, Jeroen Breckpot, Wilhelmina S Kerstjens-Frederikse, David S Winlaw, Ulrike M M Bauer, Seema Mital, Elizabeth Goldmuntz, Bernard Keavney, Damien Bonnet, Barbara J Mulder, Michael W T Tanck, Jeroen Bakkers, Vincent M Christoffels, Cornelis J Boogerd, Alex V Postma, Connie R Bezzina

Faculty, Staff and Student Publications

RATIONALE: Dextro-transposition of the great arteries (D-TGA) is a severe congenital heart defect which affects approximately 1 in 4,000 live births. While there are several reports of D-TGA patients with rare variants in individual genes, the majority of D-TGA cases remain genetically elusive. Familial recurrence patterns and the observation that most cases with D-TGA are sporadic suggest a polygenic inheritance for the disorder, yet this remains unexplored.

OBJECTIVE: We sought to study the role of common single nucleotide polymorphisms (SNPs) in risk for D-TGA.

METHODS AND RESULTS: We conducted a genome-wide association study in an international set of 1,237 patients …

Grandi Byen-Supporting Child Growth And Development Through Integrated, Responsive Parenting, Nutrition And Hygiene: Study Protocol For A Randomized Controlled Trial, Patricia L Kohl, Emmanuel A Gyimah, Jenna Diaz, F Matthew Kuhlmann, Sherlie Jean-Louis Dulience, Fithi Embaye, Derek S Brown, Shenyang Guo, Joan L Luby, Jennifer L Nicholas, Jay Turner, Melissa Chapnick, Joseline Marhone Pierre, Jacques Boncy, Rony St Fleur, Maureen M Black, Lora L Iannotti

2020-Current year OA Pubs

BACKGROUND: Poor child growth and development outcomes stem from complex relationships encompassing biological, behavioral, social, and environmental conditions. However, there is a dearth of research on integrated approaches targeting these interwoven factors. The Grandi Byen study seeks to fill this research gap through a three-arm longitudinal randomized controlled trial which will evaluate the impact of an integrated nutrition, responsive parenting, and WASH (water, sanitation and hygiene) intervention on holistic child growth and development.

METHODS: We will recruit 600 mother-infant dyads living in Cap-Haitien, Haiti and randomize them equally into one of the following groups: 1) standard well-baby care; 2) nutritional …

Mortality, In-Hospital Morbidity, Care Practices, And 2-Year Outcomes For Extremely Preterm Infants In The Us, 2013-2018, Edward F. Bell, Susan R. Hintz, Nellie I. Hansen, Carla M. Bann, Myra H. Wyckoff, Sara B. Demauro, Michele C. Walsh, Betty R. Vohr, Barbara J. Stoll, Waldemar A. Carlo, Krisa P. Van Meurs, Matthew A. Rysavy, Ravi M. Patel, Stephanie L. Merhar, Pablo J. Sánchez, Abbot R. Laptook, Anna Maria Hibbs, C Michael Cotten, Carl T. D'Angio, Sarah Winter, Janell Fuller, Abhik Das, Eunice Kennedy Shriver National Institute Of Child Health And Human Development Neonatal Research Network

Pediatrics Research and Scholarship

IMPORTANCE: Despite improvement during recent decades, extremely preterm infants continue to contribute disproportionately to neonatal mortality and childhood morbidity.

OBJECTIVE: To review survival, in-hospital morbidities, care practices, and neurodevelopmental and functional outcomes at 22-26 months' corrected age for extremely preterm infants.

DESIGN, SETTING, AND PARTICIPANTS: Prospective registry for extremely preterm infants born at 19 US academic centers that are part of the Eunice Kennedy Shriver National Institute of Child Health and Human Development Neonatal Research Network. The study included 10 877 infants born at 22-28 weeks' gestational age between January 1, 2013, and December 31, 2018, including 2566 infants born …

Rspo2 And Rankl Signal Through Lgr4 To Regulate Osteoclastic Premetastatic Niche Formation And Bone Metastasis, Zhiying Yue, Xin Niu, Zengjin Yuan, Qin Qin, Wenhao Jiang, Liang He, Jingduo Gao, Yi Ding, Yanxi Liu, Ziwei Xu, Zhenxi Li, Zhengfeng Yang, Rong Li, Xiwen Xue, Yankun Gao, Fei Yue, Xiang H-F Zhang, Guohong Hu, Yi Wang, Yi Li, Geng Chen, Stefan Siwko, Alison Gartland, Ning Wang, Jianru Xiao, Mingyao Liu, Jian Luo

Faculty, Staff and Students Publications

Therapeutics targeting osteoclasts are commonly used treatments for bone metastasis; however, whether and how osteoclasts regulate premetastatic niche and bone tropism are largely unknown. In this study, we report that osteoclast precursors (OPs) can function as a premetastatic niche component that facilitates breast cancer (BCa) bone metastasis at early stages. At the molecular level, unbiased GPCR ligand/agonist screening in BCa cells suggested that R-spondin 2 (RSPO2) and RANKL, through interaction with their receptor LGR4, promoted osteoclastic premetastatic niche formation and enhanced BCa bone metastasis. This was achieved by RSPO2/RANKL-LGR4 signal modulating the WNT inhibitor DKK1 through Gαq and β-catenin signaling. …

Active Living After Cancer: Adaptation And Evaluation Of A Community-Based Physical Activity Program For Minority And Medically Underserved Breast Cancer Survivors, Irene M Tami-Maury, Yue Liao, Maria L Rangel, Leticia A Gatus, Eileen H Shinn, Ashley Alexander, Karen Basen-Engquist

Faculty, Staff and Student Publications

BACKGROUND: An expanding body of research documents the benefits of physical activity for cancer survivors' physical functioning and quality of life, but few successful models provide community-based physical activity programs to cancer survivors. This report presents an evaluation of Active Living After Cancer, an evidence-based physical activity program for breast cancer survivors, adapted for community delivery to minority and medically underserved survivors.

METHODS: Survivors were recruited from health care and community settings. The program consisted of 12 weekly group sessions providing training in cognitive and behavioral skills for behavior change, brief physical activity, and cancer survivorship-related content. At the baseline …

When Eating Becomes Torturous: Understanding Nutrition-Related Cancer Treatment Side Effects Among Individuals With Cancer And Their Caregivers, Brandy-Joe Milliron, Lora Packel, Dan Dychtwald, Cynthia Klobodu, Laura Pontiggia, Ochi Ogbogu, Byron Barksdale, Jonathan Deutsch

Institute of Emerging Health Professions Faculty Papers

Individuals living with cancer often experience multiple nutrition-related side effects from cancer treatment, including changes in taste and smell, nausea, diarrhea, loss of appetite, and pain during eating. These side effects can profoundly impact nutritional status and quality of life. The purpose of this study was to explore experiences with nutrition-related cancer treatment side effects among cancer patients and their family caregivers, the way they manage such side effects, and the resulting changes in food preferences and behaviors. Structured surveys and in-depth interviews were conducted. Interviews focused on the presence and management of treatment side effects, how those changes influenced …

Accuracy And Practical Considerations For Doubly Labeled Water Analysis In Nutrition Studies Using A Laser-Based Isotope Instrument (Off-Axis Integrated Cavity Output Spectroscopy), Linda M Reynard, William W Wong, Noreen Tuross

Children’s Nutrition Research Center Staff Publications

Background: Given the utility of the doubly labeled water (DLW) method for determination of energy expenditure, additional techniques for isotope analysis of the samples are welcome. Laser-based instruments are one such new analytical tool, but their accuracy and feasibility for DLW studies are grossly understudied.

Objectives: We assessed the accuracy of laser-based isotope ratio measurements as part of the DLW method for estimation of carbon dioxide production rate (rCO2) and total energy expenditure (TEE), in between-group comparison study designs.

Methods: Urine samples from a previous study were analyzed with a laser-based instrument [off-axis integrated cavity output spectroscopy (OA-ICOS)]. In that …

Pressure-Mediated Reflection Spectroscopy Criterion Validity As A Biomarker Of Fruit And Vegetable Intake: A 2-Site Cross-Sectional Study Of 4 Racial Or Ethnic Groups, Stephanie B Jilcott Pitts, Nancy E Moran, Qiang Wu, Lisa Harnack, Neal E Craft, Neil Hanchard, Ronny Bell, Stacey G Moe, Nevin Johnson, Justice Obasohan, Pamela L Carr-Manthe, Melissa N Laska

Children’s Nutrition Research Center Staff Publications

Background: Valid biomarkers of fruit and vegetable (FV) intake are needed for field-based nutrition research.

Objectives: To examine criterion-related validity of pressure-mediated reflection spectroscopy as a proxy measure of FV intake, using plasma carotenoids and self-reported FV and carotenoid intake as primary and secondary criterion measures, respectively.

Methods: Healthy adults 18-65 y of age, self-identifying as African American/black (n = 61), Asian (n = 53), white (n = 70), or Hispanic (n = 29), in North Carolina and Minnesota were recruited. Skin carotenoids were assessed via pressure-mediated reflection spectroscopy (Veggie Meter), skin melanin via spectrophotometer, and total plasma carotenoid concentration …

Mapk4 Promotes Triple Negative Breast Cancer Growth And Reduces Tumor Sensitivity To Pi3k Blockade, Wei Wang, Dong Han, Qinbo Cai, Tao Shen, Bingning Dong, Michael T Lewis, Runsheng Wang, Yanling Meng, Wolong Zhou, Ping Yi, Chad J Creighton, David D Moore, Feng Yang

Faculty, Staff and Students Publications

About 15-20% of breast cancer (BCa) is triple-negative BCa (TNBC), a devastating disease with limited therapeutic options. Aberrations in the PI3K/PTEN signaling pathway are common in TNBC. However, the therapeutic impact of PI3K inhibitors in TNBC has been limited and the mechanism(s) underlying this lack of efficacy remain elusive. Here, we demonstrate that a large subset of TNBC expresses significant levels of MAPK4, and this expression is critical for driving AKT activation independent of PI3K and promoting TNBC cell and xenograft growth. The ability of MAPK4 to bypass PI3K for AKT activation potentially provides a direct mechanism regulating tumor sensitivity …

Total Energy Expenditure Is Repeatable In Adults But Not Associated With Short-Term Changes In Body Composition, Rebecca Rimbach, Yosuke Yamada, Hiroyuki Sagayama, Philip N Ainslie, Lene F Anderson, Liam J Anderson, Lenore Arab, Issaad Baddou, Kweku Bedu-Addo, Ellen E Blaak, Stephane Blanc, Alberto G Bonomi, Carlijn V C Bouten, Pascal Bovet, Maciej S Buchowski, Nancy F Butte, Stefan G J A Camps, Graeme L Close, Jamie A Cooper, Sai Krupa Das, Lara R Dugas, Ulf Ekelund, Sonja Entringer, Terrence Forrester, Barry W Fudge, Annelies H Goris, Michael Gurven, Catherine Hambly, Asmaa El Hamdouchi, Marije B Hoos, Sumei Hu, Noorjehan Joonas, Annemiek M Joosen, Peter Katzmarzyk, Kitty P Kempen, Misaka Kimura, William E Kraus, Robert F Kushner, Estelle V Lambert, William R Leonard, Nader Lessan, Corby K Martin, Anine C Medin, Erwin P Meijer, James C Morehen, James P Morton, Marian L Neuhouser, Theresa A Nicklas, Robert M Ojiambo, Kirsi H Pietiläinen, Yannis P Pitsiladis, Jacob Plange-Rhule, Guy Plasqui, Ross L Prentice, Roberto A Rabinovich, Susan B Racette, David A Raichlen, Eric Ravussin, Rebecca M Reynolds, Susan B Roberts, Albertine J Schuit, Anders M Sjödin, Eric Stice, Samuel S Urlacher, Giulio Valenti, Ludo M Van Etten, Edgar A Van Mil, Jonathan C K Wells, George Wilson, Brian M Wood, Jack Yanovski, Tsukasa Yoshida, Xueying Zhang, Alexia J Murphy-Alford, Cornelia U Loechl, Amy H Luke, Jennifer Rood, Dale A Schoeller, Klaas R Westerterp, William W Wong, John R Speakman, Herman Pontzer

Children’s Nutrition Research Center Staff Publications

Low total energy expenditure (TEE, MJ/d) has been a hypothesized risk factor for weight gain, but repeatability of TEE, a critical variable in longitudinal studies of energy balance, is understudied. We examine repeated doubly labeled water (DLW) measurements of TEE in 348 adults and 47 children from the IAEA DLW Database (mean ± SD time interval: 1.9 ± 2.9 y) to assess repeatability of TEE, and to examine if TEE adjusted for age, sex, fat-free mass, and fat mass is associated with changes in weight or body composition. Here, we report that repeatability of TEE is high for adults, but …

The Human Disease Ontology 2022 Update., Lynn M Schriml, James B Munro, Mike Schor, Dustin Olley, Carrie Mccracken, Victor Felix, J Allen Baron, Rebecca Jackson, Susan M. Bello, Cynthia Bearer, Richard Lichenstein, Katharine Bisordi, Nicole Campion Dialo, Michelle Giglio, Carol Greene

Faculty Research 2022

The Human Disease Ontology (DO) (www.disease-ontology.org) database, has significantly expanded the disease content and enhanced our userbase and website since the DO's 2018 Nucleic Acids Research DATABASE issue paper. Conservatively, based on available resource statistics, terms from the DO have been annotated to over 1.5 million biomedical data elements and citations, a 10× increase in the past 5 years. The DO, funded as a NHGRI Genomic Resource, plays a key role in disease knowledge organization, representation, and standardization, serving as a reference framework for multiscale biomedical data integration and analysis across thousands of clinical, biomedical and computational research projects and …

Effect Of Aerobic Or Resistance Exercise, Or Both, On Intermuscular And Visceral Fat And Physical And Metabolic Function In Older Adults With Obesity While Dieting, Debra L Waters, Lina Aguirre, Burke Gurney, David R Sinacore, Kenneth Fowler, Giulia Gregori, Reina Armamento-Villareal, Clifford Qualls, Dennis T Villareal

2020-Current year OA Pubs

BACKGROUND: Obesity exacerbates age-related effects on body composition and physical and metabolic function. Which exercise mode is most effective in mitigating these deleterious changes in dieting older adults with obesity is unknown.

METHODS: In a randomized controlled trial, we performed a head-to-head comparison of aerobic (AEX), resistance (REX), or combination (COMB) exercise during matched ~10% weight loss in 160 obese older adults. Prespecified analyses compared 6-month changes in intermuscular adipose tissue (IMAT) and visceral adipose tissue (VAT) assessed using MRI, insulin sensitivity index (ISI) by oral glucose tolerance test, physical function using Modified Physical Performance Test (PPT), VO2peak, gait speed, …

The Role Of Electrical Stimulation For Rehabilitation And Regeneration After Spinal Cord Injury, Brian A Karamian, Nicholas Siegel, Blake Nourie, Mijail Serruya, Robert F Heary, James Harrop, Alex R. Vaccaro

Rothman Institute Papers

Electrical stimulation is used to elicit muscle contraction and can be utilized for neurorehabilitation following spinal cord injury when paired with voluntary motor training. This technology is now an important therapeutic intervention that results in improvement in motor function in patients with spinal cord injuries. The purpose of this review is to summarize the various forms of electrical stimulation technology that exist and their applications. Furthermore, this paper addresses the potential future of the technology.

Place Is Power: Investing In Communities As A Systemic Leverage Point To Reduce Breast Cancer Disparities By Race, Matthew Jay Lyons, Senaida Fernandez Poole, Ross C Brownson, Rodney Lyn

2020-Current year OA Pubs

Racial disparities in breast cancer present a vexing and complex challenge for public health. A diverse array of factors contributes to disparities in breast cancer incidence and outcomes, and, thus far, efforts to improve racial equity have yielded mixed results. Systems theory offers a model that is well-suited to addressing complex issues. In particular, the concept of a systemic leverage point offers a clue that may assist researchers, policymakers, and interventionists in formulating innovative and comprehensive approaches to eliminating racial disparities in breast cancer. Naming systemic racism as a fundamental cause of disparities, we use systems theory to identify residential …

Comparison Of Etdrs 7-Field To 4-Widefield Digital Imaging In The Evaluation Of Diabetic Retinopathy Severity, Barbara A Blodi, Amitha Domalpally, Ashley H Tjaden, Nancy Barrett, Emily Y Chew, William C Knowler, Christine G Lee, Xavier Pi-Sunyer, Amisha Wallia, Neil H White, Marinella Temprosa

Open Access Publications

Purpose: To compare Early Treatment Diabetic Retinopathy Study (ETDRS) severity levels between two digital fundus imaging protocols for research studies of diabetic retinopathy: the gold standard 7-field (7F) imaging and the more recent 4-widefield (4W) imaging.

Methods: Two hundred twenty-two participants enrolled in the Diabetes Prevention Program Outcomes Study underwent concurrent 7F and 4W imaging. The ETDRS levels from 220 paired gradable images were determined by masked graders. Each image was graded by two independent graders with adjudication by a senior grader, if necessary. Percent agreement between graders and between imaging protocols was evaluated with kappa statistics and weighted kappa …

Mothers' Perceptions Of Their Children's Weight: Opportunity For Health Promotion In Kuwait, Abdullah Al-Taiar, Nawal Alqaoud, Reem Sharaf-Alddin, Muge Akpinar-Elci

Community & Environmental Health Faculty Publications

Background: Mothers’ perceptions of their children’s weight remain mostly unknown in oil-rich countries of the Middle East.

Aims: To compare maternal perceptions of their children’s weight with actual body weight.

Methods: We used the Kuwait nutritional surveillance data for 5 consecutive years (2015-2019) (N = 5119), which were collected through face-to-face interviews with mothers of children aged 2-5 years attending vaccination centres.

Results: Of the 5119 mothers in the study, 163 (3.18%) and 332 (6.48%) had obese or overweight children, respectively. Among 4624 mothers who had normal weight children, 1350 (29.20%) perceived their children’s weight as …

Exploring How Public Health Partnerships With Community-Based Organizations (Cbos) Can Be Leveraged For Health Promotion And Community Health., Senila Yasmin, Rayna Haque, Kaneza Kadambaya, Marzia Maliha, Maha Sheikh

Student Papers, Posters & Projects

The Academic Public Health Corps (APHC) works to support local public health in Massachusetts through varying models of collaboration. In the setting of the COVID-19 pandemic, one initiative of the APHC has been to partner with community-based organizations (CBOs) to address vaccine hesitancy and improve overall community health. The purpose of this article is to share how the APHC partnered with CBOs in Massachusetts to address COVID-19 concerns within their respective communities, and present strategies to empower communities, share resources, and increase health promotion. The APHC partnered with 2 CBOs who received the Massachusetts COVID-19 Community Grants distributed by Health …

Oral Health Literacy Inventories For Caregivers Of Preschool-Aged Children: A Systematic Review, Melissa L. Sullivan, Denise M. Claiborne, Deanne Shuman

Dental Hygiene Faculty Publications

Purpose: The purpose of this systematic review was to describe the oral health literacy (OHL) inventories that have been used among caregivers of preschool-aged children.

Methods: Four databases were searched (CINAHL, Cochrane Database of Systematic Reviews, Dentistry & Oral Sciences Source, PubMed), to identify peer-reviewed, full-text studies published in English on the oral health literacy among caregivers of preschool-aged children from 2010-2021. All studies were assessed for eligibility using PRISMA guidelines. Inclusion criteria were experimental, non-experimental, or mixed methods peer-reviewed studies, conducted in the United States. Eligible studies were independently evaluated using the Effective Public Health Practice Project's Quality Assessment …

Racial/Ethnic Variations In Alcohol And Cigarette Use By Pregnancy Status Among 20- To 44-Year-Old Women, Nhanes 2001–2018, Jacqueline M Hirth, Catherine Valadez, Sandra Gonzalez, Alicia Kowalchuk, Judith A Gutierrez, Roger Zoorob

Faculty, Staff and Students Publications

OBJECTIVES: This study examines alcohol consumption and smoking behaviors by pregnancy status and race/ethnicity in order to inform improved interventions designed to assist women of all races to avoid alcohol and tobacco use during pregnancy for their health and to prevent potential fetal exposure.

METHODS: This retrospective secondary data analysis utilized nationally representative National Health and Nutrition Examination Survey data between 2001 and 2018. Smoking and alcohol use were evaluated by race/ethnicity and pregnancy risk. Sexual behavior, reproductive health, and prescription drug use determined pregnancy risk, categorized as low pregnancy risk, at risk of becoming pregnant, and pregnant. Binary and …

Hypermethylation Of Pi3k-Akt Signalling Pathway Genes Is Associated With Human Neural Tube Defects, Tian Tian, Xinyuan Lai, Kuanhui Xiang, Xiao Han, Shengju Yin, Robert M Cabrera, John W Steele, Yunping Lei, Xuanye Cao, Richard H Finnell, Linlin Wang, Aiguo Ren

Faculty, Staff and Students Publications

Neural tube defects (NTDs) are a group of common and severe congenital malformations. The PI3K-AKT signalling pathway plays a crucial role in the neural tube development. There is limited evidence concerning any possible association between aberrant methylation in PI3K-AKT signalling pathway genes and NTDs. Therefore, we aimed to investigate potential associations between aberrant methylation of PI3K-AKT pathway genes and NTDs. Methylation studies of PI3K-AKT pathway genes utilizing microarray genome-methylation data derived from neural tissues of ten NTD cases and eight non-malformed controls were performed. Targeted DNA methylation analysis was subsequently performed in an independent cohort of 73 NTD cases and …

Inclusion Of Children With Disabilities In Qualitative Health Research: A Scoping Review, Janet Njelesani, Vongai Mlambo, Tsedenia Denekew, Jean Hunleth

2020-Current year OA Pubs

BACKGROUND: Children with disabilities have the right to participate in health research so their priorities, needs, and experiences are included. Health research based primarily on adult report risks misrepresenting children with disabilities and their needs, and contributes to exclusion and a lack of diversity in the experiences being captured. Prioritizing the participation of children with disabilities enhances the relevance, meaningfulness, and impact of research.

METHODS: A scoping review was conducted to critically examine the participation of children with disabilities in qualitative health research. The electronic databases PubMed, PsychInfo, Embase, and Google Scholar were searched. Inclusion criteria included qualitative health studies …

Tumor Microenvironment Enriches The Stemness Features: The Architectural Event Of Therapy Resistance And Metastasis, Palanisamy Nallasamy, Rama Krishna Nimmakayala, Seema Parte, Abhirup C. Are, Surinder K. Batra, Moorthy P. Ponnusamy

Journal Articles: Biochemistry & Molecular Biology

Cancer divergence has many facets other than being considered a genetic term. It is a tremendous challenge to understand the metastasis and therapy response in cancer biology; however, it postulates the opportunity to explore the possible mechanism in the surrounding tumor environment. Most deadly solid malignancies are distinctly characterized by their tumor microenvironment (TME). TME consists of stromal components such as immune, inflammatory, endothelial, adipocytes, and fibroblast cells. Cancer stem cells (CSCs) or cancer stem-like cells are a small sub-set of the population within cancer cells believed to be a responsible player in the self-renewal, metastasis, and therapy response of …

Nutrition Support Practices For Infants Born <750 Grams Or <25 Weeks Gestation: A Call For More Research, Melissa K. Thoene, Ann Anderson-Berry

Journal Articles: Pediatrics

With advances in medical care and efforts to care for continually smaller and younger preterm infants, the gestational age of viability has decreased, including as young as 21 or 22 weeks of gestation [...].

Kidney Disease After Heart And Lung Transplantation, Carlos M Zapata, Hassan N Ibrahim

Faculty, Staff and Student Publications

Chronic kidney disease (CKD) is not only common after lung and heart transplantation but also is associated with increased morbidity and mortality due to multiple pre-, peri- and post-transplant factors. While the exact incidence of CKD in this population is not well-defined, it seems to have gradually increased over the years as older recipients are more frequently considered. The increasing success of the procedure and expanding transplant candidate pool has allowed many with comorbid conditions to receive a transplant, which was considered prohibitive in the past. This review presents risk factors that have been linked to CKD as well as …

The Autophagic Protein P62 Is A Target Of Reactive Aldehydes In Human And Murine Cholestatic Liver Disease, Colin T Shearn, Aimee L Anderson, Michael W Devereux, David J Orlicky, Cole Michel, Dennis R Petersen, Colin G Miller, Sanjiv Harpavat, Edward E Schmidt, Ronald J Sokol

Faculty, Staff and Students Publications

Inflammatory cholestatic liver diseases, including Primary Sclerosing Cholangitis (PSC), are characterized by periportal inflammation with progression to cirrhosis. The objective of this study was to examine interactions between oxidative stress and autophagy in cholestasis. Using hepatic tissue from male acute cholestatic (bile duct ligated) as well as chronic cholestatic (Mdr2KO) mice, localization of oxidative stress, the antioxidant response and induction of autophagy were analyzed and compared to human PSC liver. Concurrently, the ability of reactive aldehydes to post-translationally modify the autophagosome marker p62 was assessed in PSC liver tissue and in cell culture. Expression of autophagy markers was upregulated in …

Genetics: Is Lada Just Late Onset Type 1 Diabetes?, M Hernández, Y Nóvoa-Medina, R Faner, E Palou, A Esquerda, E Castelblanco, A M Wägner, D Mauricio

2020-Current year OA Pubs

Background: There is a controversy regarding Latent Autoimmune Diabetes in Adults (LADA) classification and whether it should be considered a slowly progressing form of type 1 (T1) diabetes (DM) or a distinct type of DM altogether.

Methods: This cross-sectional study assessed major genes associated with T1DM (class II

Results: A total of 578 participants were included: 248 with T1DM (70 diagnosed after the age of 30), 256 with T2DM and 74 with LADA. High risk HLA alleles were significantly more frequent in LADA than in T2DM, whereas the opposite was true for protective alleles. We found a lower frequency of …

How To "Start Small And Just Keep Moving Forward": Mixed Methods Results From A Stepped-Wedge Trial To Support Evidence-Based Processes In Local Health Departments, Rebekah R Jacob, Renee G Parks, Peg Allen, Stephanie Mazzucca, Yan Yan, Sarah Kang, Debra Dekker, Ross C Brownson

2020-Current year OA Pubs

BACKGROUND: Local health departments (LHDs) in the United States are charged with preventing disease and promoting health in their respective communities. Understanding and addressing what supports LHD's need to foster a climate and culture supportive of evidence-based decision making (EBDM) processes can enhance delivery of effective practices and services.

METHODS: We employed a stepped-wedge trial design to test staggered delivery of implementation supports in 12 LHDs (Missouri, USA) to expand capacity for EBDM processes. The intervention was an in-person training in EBDM and continued support by the research team over 24 months (March 2018-February 2020). We used a mixed-methods approach …

One-Carbon Metabolism In Children With Marasmus And Kwashiorkor, Thaddaeus May, Bethany De La Haye, Gabrielle Nord, Kevin Klatt, Kevin Stephenson, Sara Adams, Lucy Bollinger, Neil Hanchard, Erland Arning, Teodoro Bottiglieri, Kenneth Maleta, Mark Manary, Farook Jahoor

Children’s Nutrition Research Center Staff Publications

BACKGROUND: Kwashiorkor is a childhood syndrome of edematous malnutrition. Its precise nutritional precipitants remain uncertain despite nine decades of study. Remarkably, kwashiorkor's disturbances resemble the effects of experimental diets that are deficient in one-carbon nutrients. This similarity suggests that kwashiorkor may represent a nutritionally mediated syndrome of acute one-carbon metabolism dysfunction. Here we report findings from a cross-sectional exploration of serum one-carbon metabolites in Malawian children.

METHODS: Blood was collected from children aged 12-60 months before nutritional rehabilitation: kwashiorkor (N = 94), marasmic-kwashiorkor (N = 43) marasmus (N = 118), moderate acute malnutrition (N = 56) and controls (N = …