Life Sciences Commons^™

Meta-Analyses Identify Dna Methylation Associated With Kidney Function And Damage, Pascal Schlosser, Adrienne Tin, Pamela R Matias-Garcia, Chris H L Thio, Roby Joehanes, Hongbo Liu, Antoine Weihs, Zhi Yu, Anselm Hoppmann, Franziska Grundner-Culemann, Josine L Min, Adebowale A Adeyemo, Charles Agyemang, Johan Ärnlöv, Nasir A Aziz, Andrea Baccarelli, Murielle Bochud, Hermann Brenner, Monique M B Breteler, Cristian Carmeli, Layal Chaker, John C Chambers, Shelley A Cole, Josef Coresh, Tanguy Corre, Adolfo Correa, Simon R Cox, Niek De Klein, Graciela E Delgado, Arce Domingo-Relloso, Kai-Uwe Eckardt, Arif B Ekici, Karlhans Endlich, Kathryn L Evans, James S Floyd, Myriam Fornage, Lude Franke, Eliza Fraszczyk, Xu Gao, Xīn Gào, Mohsen Ghanbari, Sahar Ghasemi, Christian Gieger, Philip Greenland, Megan L Grove, Sarah E Harris, Gibran Hemani, Peter Henneman, Christian Herder, Steve Horvath, Lifang Hou, Mikko A Hurme, Shih-Jen Hwang, Marjo-Riitta Jarvelin, Sharon L R Kardia, Silva Kasela, Marcus E Kleber, Wolfgang Koenig, Jaspal S Kooner, Holly Kramer, Florian Kronenberg, Brigitte Kühnel, Terho Lehtimäki, Lars Lind, Dan Liu, Yongmei Liu, Donald M Lloyd-Jones, Kurt Lohman, Stefan Lorkowski, Ake T Lu, Riccardo E Marioni, Winfried März, Daniel L Mccartney, Karlijn A C Meeks, Lili Milani, Pashupati P Mishra, Matthias Nauck, Ana Navas-Acien, Christoph Nowak, Annette Peters, Holger Prokisch, Bruce M Psaty, Olli T Raitakari, Scott M Ratliff, Alex P Reiner, Sylvia E Rosas, Ben Schöttker, Joel Schwartz, Sanaz Sedaghat, Jennifer A Smith, Nona Sotoodehnia, Hannah R Stocker, Silvia Stringhini, Johan Sundström, Brenton R Swenson, Maria Tellez-Plaza, Joyce B J Van Meurs, Jana V Van Vliet-Ostaptchouk, Andrea Venema, Niek Verweij, Rosie M Walker, Matthias Wielscher, Juliane Winkelmann, Bruce H R Wolffenbuttel, Wei Zhao, Yinan Zheng, Marie Loh, Harold Snieder, Daniel Levy, Melanie Waldenberger, Katalin Susztak, Anna Köttgen, Alexander Teumer

Journal Articles

Chronic kidney disease is a major public health burden. Elevated urinary albumin-to-creatinine ratio is a measure of kidney damage, and used to diagnose and stage chronic kidney disease. to extend the knowledge on regulatory mechanisms related to kidney function and disease, we conducted a blood-based epigenome-wide association study for estimated glomerular filtration rate (n = 33,605) and urinary albumin-to-creatinine ratio (n = 15,068) and detected 69 and seven CpG sites where DNA methylation was associated with the respective trait. The majority of these findings showed directionally consistent associations with the respective clinical outcomes chronic kidney disease and moderately increased albuminuria. …

Early Impact Of The Covid-19 Pandemic On Promotion Of Infant Activity, Strength And Communication: A Qualitative Exploration, Kailey Snyder, Priyanka Chaudhary, Angela Pereira, Kimberly Masuda, Jessica Niski, Danae Dinkel

Journal Articles

Introduction

Fostering physical activity, muscle strengthening and communication skills in diverse environments are vital to ensuring healthy infant development; however, promotion of these skills may be impacted by the COVID-19 pandemic. Therefore, the purpose of this study was to explore healthcare workers, parents and childcare providers' perceptions of the pandemic's influence on how they engage with infants to promote physical activity, muscle strength and communication.

Methods

37 subjects (12 = parents; 12 = childcare providers, 13 = healthcare workers) participated in a semi-structured interview. Data were analyzed via an inductive content analysis.

Results

The majority of caregivers identified concerns related …

Claudicating Patients With Peripheral Artery Disease Have Meaningful Improvement In Walking Speed After Supervised Exercise Therapy, Hafizur Rahman, Iraklis Pipinos, Jason M. Johanning, George P. Casale, Mark A. Williams, Jonathan R. Thompson, Yohanis O'Neill-Casto, Sara A. Myers

Journal Articles

Objective

Supervised exercise therapy (SET) is a first-line treatment for patients with peripheral artery disease (PAD). The efficacy of SET is most commonly expressed by significant statistical improvement of parameters that do not clarify how each individual patient will benefit from SET. This study examined the minimal clinically important difference (MCID) in walking speed in claudicating patients with PAD after SET.

Methods

A total of 63 patients with PAD-related claudication (Fontaine stage II PAD) participated in a 6-month SET program. Self-selected walking speed was measured before and after SET. Distribution and anchor-based approaches were used to estimate the MCID for …

Virtual Reality As A Context For Adaptation, Matthew Yarossi, Madhur Mangalam, Stephanie Naufel, Eugene Tunik

Journal Articles

The COVID-19 pandemic has accelerated interest in virtual reality (VR) for education, entertainment, telerehabilitation, and skills training. As the frequency and duration of VR engagement increases—the number of people in the United States using VR at least once per month is forecasted to exceed 95 million—it is critical to understand how VR engagement influences brain and behavior. Here, we evaluate neurophysiological effects of sensory conflicts induced by VR engagement and posit an intriguing hypothesis: the brain processes VR as a unique “context” leading to the formation and maintenance of independent sensorimotor representations. We discuss known VR-induced sensorimotor adaptations to illustrate …

Physical Activity, Physical Well-Being, And Psychological Well-Being: Associations With Life Satisfaction During The Covid-19 Pandemic Among Early Childhood Educators, Ken Randall, Timothy G. Ford, Kyong-Ah Kwon, Susan Sisson, Matthew Bice, Danae Dinkel, Jessica Tsotsoros

Journal Articles

Seeking personal well-being and life satisfaction during a global pandemic can be daunting, such is the case for early care and education teachers who were considered non-health care essential workers during the COVID-19 pandemic. The potential changes in their physical activity, along with their overall physical and psychological well-being, may have ultimately influenced their life satisfaction. These changes included the potential for increased sedentary behaviors. Despite the high health risks associated with these factors during the pandemic, the role of physical activity in early care and education teachers’ well-being and life satisfaction remains largely unknown. The purpose of this study …

Comprehensive Characterization Of Covid-19 Patients With Repeatedly Positive Sars-Cov-2 Tests Using A Large U.S. Electronic Health Record Database., Xiao Dong, Yujia Zhou, Xiao-Ou Shu, Elmer V Bernstam, Rebecca Stern, David M Aronoff, Hua Xu, Loren Lipworth

Journal Articles

In the absence of genome sequencing, two positive molecular tests for severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) separated by negative tests, prolonged time, and symptom resolution remain the best surrogate measure of possible reinfection. Using a large electronic health record database, we characterized clinical and testing data for 23 patients with repeatedly positive SARS-CoV-2 PCR test results ≥60 days apart, separated by ≥2 consecutive negative test results. The prevalence of chronic medical conditions, symptoms, and severe outcomes related to coronavirus disease 19 (COVID-19) illness were ascertained. The median age of patients was 64.5 years, 40% were Black, and 39% …

Exome Sequence Association Study Of Levels And Longitudinal Change Of Cardiovascular Risk Factor Phenotypes In European Americans And African Americans From The Atherosclerosis Risk In Communities Study, Elena V Feofanova, Elise Lim, Han Chen, Minjae Lee, Ching-Ti Liu, L Adrienne Cupples, Eric Boerwinkle

Journal Articles

Cardiovascular disease (CVD) is responsible for 31% of all deaths worldwide. Among CVD risk factors are age, race, increased systolic blood pressure (BP), and dyslipidemia. Both BP and blood lipids levels change with age, with a dose-dependent relationship between the cumulative exposure to hyperlipidemia and the risk of CVD. We performed an exome sequence association study using longitudinal data with up to 7805 European Americans (EAs) and 3171 African Americans (AAs) from the Atherosclerosis Risk in Communities (ARIC) study. We assessed associations of common (minor allele frequency > 5%) nonsynonymous and splice-site variants and gene-based sets of rare variants with levels …

Effects Of Sensory Feedback And Collider Size On Reach-To-Grasp Coordination In Haptic-Free Virtual Reality, Mariusz P. Furmanek, Madhur Mangalam, Kyle Lockwood

Journal Articles

Technological advancements and increased access have prompted the adoption of head- mounted display based virtual reality (VR) for neuroscientific research, manual skill training, and neurological rehabilitation. Applications that focus on manual interaction within the virtual environment (VE), especially haptic-free VR, critically depend on virtual hand-object collision detection. Knowledge about how multisensory integration related to hand-object collisions affects perception-action dynamics and reach-to-grasp coordination is needed to enhance the immersiveness of interactive VR. Here, we explored whether and to what extent sensory substitution for haptic feedback of hand-object collision (visual, audio, or audiovisual) and collider size (size of spherical pointers representing the …

A Qualitative Comparison Of Parent And Childcare Provider Perceptions Of Communication And Family Engagement In Children's Healthy Eating And Physical Activity, Danae Dinkel, Maggie Rasmussen, John Rech, Kailey Snyder, Dipti A. Dev

Journal Articles

Background

Parents and childcare providers play a substantial role in the development of health behaviours among the children they care for. In order to ensure the optimal growth and development of children, communication and family engagement in childcare is critical. Previous studies examining parent or provider perceptions about healthy eating or physical activity have explored these concepts individually and/or have only included only parents or providers. Therefore, the purpose of this study was to compare childcare provider and parent perceptions of communication regarding healthy eating and physical activity as well as use of best practice strategies on family engagement for …

How Tufted Capuchin Monkeys (Sapajus Spp.) And Humans (Homo Sapiens) Handle A Jointed Tool., Dorothy M. Fragaszy, Joshua D. Lukemire, Jose Eduardo Reynoso-Cruz, Stephanie Villarreal Jordan, Spencer Sheheane, Amanda Heaton, Monica Quinones, Madhur Mangalam

Journal Articles

The embodied theory of tooling predicts that when using a grasped object as a tool, individuals accommodate their actions to manage the altered degrees of freedom in the body-plus-object system. We tested predictions from this theory by studying how 3 tufted capuchin monkeys (Sapajus spp.) and 6 humans (Homo sapiens) used a hoe to retrieve a token. The hoe’s handle was rigid, had 2 segments with 1 planar joint, or had 3 segments with 2 (orthogonal) planar joints. When jointed, rotating the handle could render it rigid. The monkeys used more actions to retrieve the token when the handle had …

Genome-Wide Association Study Of Serum Metabolites In The African American Study Of Kidney Disease And Hypertension, Shengyuan Luo, Elena V Feofanova, Adrienne Tin, Sarah Tung, Eugene P Rhee, Josef Coresh, Dan E Arking, Aditya Surapaneni, Pascal Schlosser, Yong Li, Anna Köttgen, Bing Yu, Morgan E Grams

Journal Articles

The genome-wide association study (GWAS) is a powerful means to study genetic determinants of disease traits and generate insights into disease pathophysiology. to date, few GWAS of circulating metabolite levels have been performed in African Americans with chronic kidney disease. Hypothesizing that novel genetic-metabolite associations may be identified in a unique population of African Americans with a lower glomerular filtration rate (GFR), we conducted a GWAS of 652 serum metabolites in 619 participants (mean measured glomerular filtration rate 45 mL/min/1.73m

Associations Between Physiological Biomarkers And Psychosocial Measures Of Pregnancy-Specific Anxiety And Depression With Support Intervention, Karen L Weis, Tony T Yuan, Katherine C Walker, Thomas F Gibbons, Wenyaw Chan

Journal Articles

Stress and anxiety significantly impact the hypothalamic-pituitary axis, and in pregnancy, the subsequent maternal-fetal response can lead to poor outcomes. The objective of this study was to assess the association between psychosocial measures of pregnancy-specific anxiety and physiologic inflammatory responses. Specifically, to determine the effectiveness of the Mentors Offering Maternal Support (M-O-M-S

Examining Supports And Barriers To Breastfeeding Through A Socio-Ecological Lens: A Qualitative Study, Kailey Snyder, Emily Hulse, Holly Dingman, Angie Cantrell, Corrine Hanson, Danae Dinkel

Journal Articles

Background

Early breastfeeding cessation is a societal concern given its importance to the health of mother and child. More effective interventions are needed to increase breastfeeding duration. Prior to developing such interventions more research is needed to examine breastfeeding supports and barriers from the perspective of breastfeeding stakeholders. One such framework that can be utilized is the Socio-Ecological Model which stems from Urie Broffenbrenner’s early theoretical frameworks (1973–1979). The purpose of this study was to examine supports and barriers to breastfeeding across environmental systems.

Methods

A total of 49 representatives participated in a telephone interview in Nebraska, USA in 2019. …

The Use Of Family Engagement Principles By Childcare Providers From Various Childcare Settings: A Qualitative Study, John Rech, Kailey Snyder, Maggie Rasmussen, Dipti A. Dev, Danae Dinkel

Journal Articles

Family engagement in childcare is important to ensure the optimal growth, development, and safety of children. Previous research has explored family engagement practices, but limited research is available on the application of theory to explain the uptake of family engagement principles. The purpose of this study was to explore the use and perceptions of the National Association of the Education for Young Children’s six principles of effective family engagement among childcare providers from various childcare settings following the Innovation-Decision Process of the Diffusion of Innovation Theory. A semi-structured interview with a card-sorting task was used to explore providers’ knowledge, adoption, …

A Qualitative Exploration Of The Feasibility Of Incorporating Depression Apps Into Integrated Primary Care Clinics, Danae Dinkel, Jennifer Harsh Caspari, Louis Fok, Maxine Notice, David J. Johnson, Shinobu Watanabe-Galloway, Margaret R. Emerson

Journal Articles

Background: The use of mobile applications or “apps” is beginning to be identified as a potential cost-effective tool for treating depression. While the use of mobile apps for health management appears promising, little is known on how to incorporate these tools into integrated primary care settings – especially from the viewpoints of patients and the clinic personnel. Purpose: The purpose of this study was to explore patient- and clinic-level perceptions of the use of depression self-management apps within an integrated primary care setting. Methods: Patients (n=17), healthcare providers, and staff (n=15) completed focus groups or semi-structured interviews in-person or via …

Digital Technology Needs In Maternal Mental Health: A Qualitative Inquiry., Alexandra Zingg, Laura Carter, Deevakar Rogith, Amy Franklin, Sudhakar Selvaraj, Jerrie Refuerzo, Sahiti Myneni

Journal Articles

Digital technologies offer many opportunities to improve mental healthcare management for women seeking pre- and-postnatal care. They provide a discrete, practical medium that is well-suited for the sensitive nature of mental health. Women who are more prone to experiencing peripartum depression (PPD), such as those of low-socioeconomic background or in high-risk pregnancies, can benefit the most from such technologies. However, current digital interventions directed towards this population provide suboptimal support, and their responsiveness to end user needs is quite limited. Our objective is to understand the digital terrain of information needs for low-socioeconomic status women with high-risk pregnancies, specifically within …

Med-Bert: Pretrained Contextualized Embeddings On Large-Scale Structured Electronic Health Records For Disease Prediction., Laila Rasmy, Yang Xiang, Ziqian Xie, Cui Tao, Degui Zhi

Journal Articles

Deep learning (DL)-based predictive models from electronic health records (EHRs) deliver impressive performance in many clinical tasks. Large training cohorts, however, are often required by these models to achieve high accuracy, hindering the adoption of DL-based models in scenarios with limited training data. Recently, bidirectional encoder representations from transformers (BERT) and related models have achieved tremendous successes in the natural language processing domain. The pretraining of BERT on a very large training corpus generates contextualized embeddings that can boost the performance of models trained on smaller datasets. Inspired by BERT, we propose Med-BERT, which adapts the BERT framework originally developed …

Genetic And Non-Genetic Factors Affecting The Expression Of Covid-19-Relevant Genes In The Large Airway Epithelium, Silva Kasela, Victor E Ortega, Molly Martorella, Suresh Garudadri, Jenna Nguyen, Elizabeth Ampleford, Anu Pasanen, Srilaxmi Nerella, Kristina L Buschur, Igor Z Barjaktarevic, R Graham Barr, Eugene R Bleecker, Russell P Bowler, Alejandro P Comellas, Christopher B Cooper, David J Couper, Gerard J Criner, Jeffrey L Curtis, Meilan K Han, Nadia N Hansel, Eric A Hoffman, Robert J Kaner, Jerry A Krishnan, Fernando J Martinez, Merry-Lynn N Mcdonald, Deborah A Meyers, Robert Paine, Stephen P Peters, Mario Castro, Loren C Denlinger, Serpil C Erzurum, John V Fahy, Elliot Israel, Nizar N Jarjour, Bruce D Levy, Xingnan Li, Wendy C Moore, Sally E Wenzel, Charles Langelier, Prescott G Woodruff, Tuuli Lappalainen, Stephanie A Christenson

Journal Articles

BACKGROUND: The large airway epithelial barrier provides one of the first lines of defense against respiratory viruses, including SARS-CoV-2 that causes COVID-19. Substantial inter-individual variability in individual disease courses is hypothesized to be partially mediated by the differential regulation of the genes that interact with the SARS-CoV-2 virus or are involved in the subsequent host response. Here, we comprehensively investigated non-genetic and genetic factors influencing COVID-19-relevant bronchial epithelial gene expression.

METHODS: We analyzed RNA-sequencing data from bronchial epithelial brushings obtained from uninfected individuals. We related ACE2 gene expression to host and environmental factors in the SPIROMICS cohort of smokers with …

Genetic Discovery And Risk Characterization In Type 2 Diabetes Across Diverse Populations, Linda M Polfus, Burcu F Darst, Heather Highland, Xin Sheng, Maggie C Y Ng, Jennifer E Below, Lauren Petty, Stephanie Bien, Xueling Sim, Wei Wang, Pierre Fontanillas, Yesha Patel, Michael Preuss, Claudia Schurmann, Zhaohui Du, Yingchang Lu, Suhn K Rhie, Joseph M Mercader, Teresa Tusie-Luna, Clicerio González-Villalpando, Lorena Orozco, Cassandra N Spracklen, Brian E Cade, Richard A Jensen, Meng Sun, Yoonjung Yoonie Joo, Ping An, Lisa R Yanek, Lawrence F Bielak, Salman Tajuddin, Aude Nicolas, Guanjie Chen, Laura Raffield, Xiuqing Guo, Wei-Min Chen, Girish N Nadkarni, Mariaelisa Graff, Ran Tao, James S Pankow, Martha Daviglus, Qibin Qi, Eric A Boerwinkle, Simin Liu, Lawrence S Phillips, Ulrike Peters, Chris Carlson, Lynne R Wikens, Loic Le Marchand, Kari E North, Steven Buyske, Charles Kooperberg, Ruth J F Loos, Daniel O Stram, Christopher A Haiman

Journal Articles

Genomic discovery and characterization of risk loci for type 2 diabetes (T2D) have been conducted primarily in individuals of European ancestry. We conducted a multiethnic genome-wide association study of T2D among 53,102 cases and 193,679 control subjects from African, Hispanic, Asian, Native Hawaiian, and European population groups in the Population Architecture Genomics and Epidemiology (PAGE) and Diabetes Genetics Replication and Meta-analysis (DIAGRAM) Consortia. In individuals of African ancestry, we discovered a risk variant in the

Generalized And Transferable Patient Language Representation For Phenotyping With Limited Data., Yuqi Si, Elmer V Bernstam, Kirk Roberts

Journal Articles

The paradigm of representation learning through transfer learning has the potential to greatly enhance clinical natural language processing. In this work, we propose a multi-task pre-training and fine-tuning approach for learning generalized and transferable patient representations from medical language. The model is first pre-trained with different but related high-prevalence phenotypes and further fine-tuned on downstream target tasks. Our main contribution focuses on the impact this technique can have on low-prevalence phenotypes, a challenging task due to the dearth of data. We validate the representation from pre-training, and fine-tune the multi-task pre-trained models on low-prevalence phenotypes including 38 circulatory diseases, 23 …

Gait Variability Is Affected More By Peripheral Artery Disease Than By Vascular Occlusion, Hafizur Rahman, Iraklis Pipinos, Jason M. Johanning, Sara A. Myers

Journal Articles

Background

Patients with peripheral artery disease with intermittent claudication (PAD-IC) have altered gait variability from the first step they take, well before the onset of claudication pain. The mechanisms underlying these gait alterations are poorly understood.

Aims

To determine the effect of reduced blood flow on gait variability by comparing healthy older controls and patients with PAD-IC. We also determined the diagnostic value of gait variability parameters to identify the presence of PAD.

Methods

A cross-sectional cohort design was used. Thirty healthy older controls and thirty patients with PAD-IC walked on a treadmill at their self-selected speed in pain free …

Examining Physical Activity In Users Of Campus Recreation During Campus Closure Due To Covid-19. Journal Of Kinesiology And Wellness, Katie Burcal, Michaela Schenkelberg, Jeanne Surface, Danae Dinkel

Journal Articles

Burcal K., et. al. Campus recreation facilities are a critical resource to encourage physical activity at universities. COVID-19 closures in 2020 led to the shutdown of many campuses, which included campus recreation facilities. Little is known about how the closures impacted the physical activity levels of students, faculty, and staff who relied on campus recreation for physical activity opportunities. Therefore, the purpose of this study was to determine if individuals who were users of campus recreation prior to campus closure continued to be physically active when campus closed. The survey was completed by 282 previous users (students, faculty, and staff) …

Considerations For Implementation Of An Ankle-Foot Orthosis To Improve Mobility In Peripheral Artery Disease, Ayisha Bashir, Danae Dinkel, Ganesh M. Bapat, Holly Despiegelaere, Mahdi Hassan, Jason M. Johanning, Iraklis I. Pipinos, Sara A. Myers

Journal Articles

Objective

To explore the perceptions of wearing an ankle-foot orthosis (AFO) in patients with peripheral artery disease (PAD) who did and did not adopt the AFO intervention. This follows a clinical trial of the effectiveness of an AFO in improving walking distances for patients with PAD-related claudication.

Design

A randomized crossover trial of standard of care and an AFO for 3 months. Semistructured interviews were conducted 1.5 months into the AFO intervention to understand acceptability, demand, implementation, and practicality. Data were analyzed using a summative content analysis approach.

Setting

Vascular surgery clinic and biomechanics research laboratory.

Participants

Patients (N=15; …

Examining Differences In Achievement Of Physical Activity Best Practices Between Urban And Rural Child Care Facilities By Age, Danae Dinkel, John Rech, Yage Guo, Matthew R. Bice, Emily Hulse, Donnia Behrends, Christina Burger, Dipti Dev

Journal Articles

Go Nutrition and Physical activity Self Assessment in Child Care (NAP SACC) is an evidence based intervention developed to positively impact childhood obesity in early childhood education (ECE) facilities. One focus of Go NAP SACC is the development of physical activity best practices. However, little research has examined differences in achievement of best practices based on age of child and geographic location. The purpose of this study was to examine differences in the achievement of physical activity best practices between urban and rural childcare facilities by age-specific recommendations (infants, toddlers, and preschoolers) and in the overall physical activity environment. Urban …

A Cross-Sectional Examination Of Physical Activity, Sedentary Time, And Sleep Between Adults With And Without Children In The Home Using The National Health And Nutrition Examination Survey, Danae Dinkel, Kelsey Lu, Jemima John, Kailey Snyder, Lisette T. Joacobson

Journal Articles

Background: Physical activity (PA), sedentary behavior, and sleep are interconnected, promoting optimal health. Few studies have examined these factors holistically. Therefore, the purpose of this study was to capture the 24-hour activity cycles of the US population by examining PA, sedentary behavior, and sleep based on the presence of a child within the home, as well as gender and weight. Methods: Cross-sectional health-related variables from the National Health and Nutrition Examination Survey were used for analysis. The primary variables were the total and type of PA (recreation, work, and active transportation), sedentary behavior, and sleep. Chi-square and regression …

Mental Health Mobile App Use: Considerations For Serving Underserved Patients In Integrated Primary Care Settings, Margaret R. Emerson, Jennifer Harsh Caspari, Maxine Notice, Shinobu Watanabe-Galloway, Danae Dinkel, Josiane Kabayundo

Journal Articles

Depression, the most commonly experienced mental illness, affects more than 264 million people and is one of the leading causes of disability worldwide [1]. Depression, or major depressive disorder, is characterized by depressed mood and often accompanies other symptoms such as lack of interest, fatigue, feelings of worthlessness, impaired thinking, psychomotor agitation or slowing, thoughts of being better off dead and/or of suicide [2]. According to the 2018 National Survey of Drug Use and Health (NSDUH), 17.7 million or 7.7% of U.S. adults met the criteria for having a major depressive episode in the past year [ …

Perspectives Of Infant Active Play: A Qualitative Comparison Of Working Versus Stay-At-Home Parents, Kailey Snyder, John Rech, Kimberly Masuda, Danae Dinkel

Journal Articles

Background: Parents play a key role in infant’s development through their interactions and the type of environment they provide to promote active play. The amount of time parents are able to spend with their infant is dependent on their working status, yet few studies have explored parent perception of their infant’s active play by working status. The purpose of this study was to explore parent perception of active play and compare responses between working and stay-at-home parents. Methods: Twenty-nine parents participated in this qualitative study by completing a one-time, in-person semistructured interview based on the Theory of Planned Behavior. Themes …

Absent B Cells, Agammaglobulinemia, And Hypertrophic Cardiomyopathy In Folliculin-Interacting Protein 1 Deficiency, Francesco Saettini, Cecilia Poli, Jaime Vengoechea, Sonia Bonanomi, Julio C Orellana, Grazia Fazio, Fred H Rodriguez, Loreani P Noguera, Claire Booth, Valentina Jarur-Chamy, Marissa Shams, Maria Iascone, Maja Vukic, Serena Gasperini, Manuel Quadri, Amairelys Barroeta Seijas, Elizabeth Rivers, Mario Mauri, Raffaele Badolato, Gianni Cazzaniga, Cristina Bugarin, Giuseppe Gaipa, Wilma G M Kroes, Daniele Moratto, Monique M Van Oostaijen-Ten Dam, Frank Baas, Silvère Van Der Maarel, Rocco Piazza, Zeynep H Coban-Akdemir, James R Lupski, Bo Yuan, Ivan K Chinn, Lucia Daxinger, Andrea Biondi

Journal Articles

Agammaglobulinemia is the most profound primary antibody deficiency that can occur due to an early termination of B-cell development. We here investigated 3 novel patients, including the first known adult, from unrelated families with agammaglobulinemia, recurrent infections, and hypertrophic cardiomyopathy (HCM). Two of them also presented with intermittent or severe chronic neutropenia. We identified homozygous or compound-heterozygous variants in the gene for folliculin interacting protein 1 (FNIP1), leading to loss of the FNIP1 protein. B-cell metabolism, including mitochondrial numbers and activity and phosphatidylinositol 3-kinase/AKT pathway, was impaired. These defects recapitulated the Fnip1-/- animal model. Moreover, we identified either uniparental disomy …

Genome-Wide Meta-Analysis Of Muscle Weakness Identifies 15 Susceptibility Loci In Older Men And Women, Garan Jones, Katerina Trajanoska, Adam J Santanasto, Najada Stringa, Chia-Ling Kuo, Janice L Atkins, Joshua R Lewis, Thuyvy Duong, Shengjun Hong, Mary L Biggs, Jian'an Luan, Chloe Sarnowski, Kathryn L Lunetta, Toshiko Tanaka, Mary K Wojczynski, Ryan Cvejkus, Maria Nethander, Sahar Ghasemi, Jingyun Yang, M Carola Zillikens, Stefan Walter, Kamil Sicinski, Erika Kague, Cheryl L Ackert-Bicknell, Dan E Arking, B Gwen Windham, Eric Boerwinkle, Megan L Grove, Misa Graff, Dominik Spira, Ilja Demuth, Nathalie Van Der Velde, Lisette C P G M De Groot, Bruce M Psaty, Michelle C Odden, Alison E Fohner, Claudia Langenberg, Nicholas J Wareham, Stefania Bandinelli, Natasja M Van Schoor, Martijn Huisman, Qihua Tan, Joseph Zmuda, Dan Mellström, Magnus Karlsson, David A Bennett, Aron S Buchman, Philip L De Jager, Andre G Uitterlinden, Uwe Völker, Thomas Kocher, Alexander Teumer, Leocadio Rodriguéz-Mañas, Francisco J García, José A Carnicero, Pamela Herd, Lars Bertram, Claes Ohlsson, Joanne M Murabito, David Melzer, George A Kuchel, Luigi Ferrucci, David Karasik, Fernando Rivadeneira, Douglas P Kiel, Luke C Pilling

Journal Articles

Low muscle strength is an important heritable indicator of poor health linked to morbidity and mortality in older people. In a genome-wide association study meta-analysis of 256,523 Europeans aged 60 years and over from 22 cohorts we identify 15 loci associated with muscle weakness (European Working Group on Sarcopenia in Older People definition: n = 48,596 cases, 18.9% of total), including 12 loci not implicated in previous analyses of continuous measures of grip strength. Loci include genes reportedly involved in autoimmune disease (HLA-DQA1 p = 4 × 10

Exchanges In A Virtual Environment For Diabetes Self-Management Education And Support: Social Network Analysis., Carlos A Pérez-Aldana, Allison A Lewinski, Constance M Johnson, Allison A Vorderstrasse, Sahiti Myneni

Journal Articles

BACKGROUND: Diabetes remains a major health problem in the United States, affecting an estimated 10.5% of the population. Diabetes self-management interventions improve diabetes knowledge, self-management behaviors, and clinical outcomes. Widespread internet connectivity facilitates the use of eHealth interventions, which positively impacts knowledge, social support, and clinical and behavioral outcomes. In particular, diabetes interventions based on virtual environments have the potential to improve diabetes self-efficacy and support, while being highly feasible and usable. However, little is known about the patterns of social interactions and support taking place within type 2 diabetes-specific virtual communities.

OBJECTIVE: The objective of this study was to …