Digital Commons Network^™

Pushing The Boundaries Of Rare Disease Diagnostics With The Help Of The First Undiagnosed Hackathon, Angelica Maria Delgado-Vega, Helene Cederroth, Fulya Taylan, Katja Ekholm, Marlene Ek, Håkan Thonberg, Anders Jemt, Daniel Nilsson, Jesper Eisfeldt, Kristine Bilgrav Saether, Ida Höijer, Ozlem Akgun-Dogan, Yui Asano, Tahsin Stefan Barakat, Dominyka Batkovskyte, Gareth Baynam, Olaf Bodamer, Wanna Chetruengchai, Pádraic Corcoran, Madeline Couse, Daniel Danis, German Demidov, Eisuke Dohi, Mattias Erhardsson, Luis Fernandez-Luna, Toyofumi Fujiwara, Neha Garg, Roberto Giugliani, Claudia Gonzaga-Jauregui, Giedre Grigelioniene, Tudor Groza, Cecilia Gunnarsson, Anna Hammarsjö, Charles Kumi Hammond, Özden Hatirnaz Ng, Sirisha Hesketh, Dineshani Hettiarachchi, Maria Johansson Soller, Umn Ahmed Kirmani, Martin Kjellberg, Malin Kvarnung, Oleg Kvlividze, Kristina Lagerstedt-Robinson, Paul Lasko, Timo Lassmann, Lynette Y S Lau, Steven Laurie, Weng Khong Lim, Zhandong Liu, Mariya Lysenkova Wiklander, Prince Makay, Alassane Baneye Maiga, Carolina Maya-González, M Stephen Meyn, Ramprasad Neethiraj, Vincenzo Nigro, Felix Nordgren, Jessica Nordlund, Sara Orrsjö, Jesper Ottosson, Ugur Ozbek, Özkan Özdemir, Clyde Partin, David A Pearce, Raquel Peck, Annie Pedersen, Maria Pettersson, Monnat Pongpanich, Manuel Posada De La Paz, Arun Ramani, Juan Andres Romero, Vanessa I Romero, Richard Rosenquist, Aung Min Saw, Matthew Spencer, Eva-Lena Stattin, Chalurmpon Srichomthong, Isabel Tapia-Paez, Domenica Taruscio, Julie P Taylor, Tinatin Tkemaladze, Ian Tully, Zeynep Tümer, Wendy A G Van Zelst-Stams, Alain Verloes, Emma Västerviga, Sailan Wang, Rachel Yang, Shinya Yamamoto, Vicente A Yépez, Qing Zhang, Vorasuk Shotelersuk, Samuel Agyei Wiafe, Yasemin Alanay, Lorenzo D Botto, Salman Kirmani, Aimé Lumaka, Elizabeth Emma Palmer, Ratna Dua Puri, Valtteri Wirta, Anna Lindstrand, Orion J Buske, Mikk Cederroth, Ann Nordgren

Duncan NRI Faculty and Staff Publications

The first-ever Undiagnosed Hackathon was a groundbreaking event held by the Wilhelm Foundation, the Karolinska Undiagnosed Disease Program, and PhenoTips in collaboration with UDNI to solve medical mysteries and advance diagnostics for undiagnosed rare diseases. Nearly 100 healthcare professionals and researchers from 28 countries participated, working intensively for 48 hours to diagnose 10 families with undiagnosed rare diseases. This innovative approach to precision diagnostics highlighted the power of international, multidisciplinary collaboration and patient partnership, yielding promising results for patients seeking answers and benefiting the entire rare diseases community.

Constitutional And Administrative Innovation Through State Labor Law, Kate Andrias

Faculty Scholarship

This Essay explores recent efforts by worker organizations to transform labor policy in states, as well as countermobilizations by business and conservative groups. It focuses on two particularly promising efforts: the development of worker standards boards and pro-labor changes to state constitutional law. It shows why, as a matter of political economy, such reforms have been achievable at the state and local levels, but not the federal level, and explores the potential of state reforms to build greater economic and political power for working people, notwithstanding limits imposed by federal preemption doctrine. Ultimately, this Essay argues that these recent innovations …

Metabolites Link Intake Of A Healthy Diet To Better Insulin And Glucose Homeostasis In The Microbiome And Insulin Longitudinal Evaluation Study (Miles), Alexis C Wood, Danielle J Lee, Patricia A Sheridan, Elizabeth T Jensen, Gautam Ramesh, Alain G Bertoni, Stephen S Rich, Yii-Der I Chen, David M Herrington, Jerome I Rotter, Mark O Goodarzi

Faculty, Staff and Students Publications

BACKGROUND: Dietary quality has been linked to better glycemic control, but the precise molecular mechanisms giving rise to these associations are not fully understood.

OBJECTIVES: To examine the association of metabolites associated with the intake of a healthy diet with measures of insulin/glucose homeostasis.

METHODS: Using cross-sectional data from 295 United States adults, the associations between 3 diet pattern scores and metabolome-wide metabolites were estimated via linear regression models, which controlled for demographic factors and health behaviors. Subsequently, the associations between the diet-related metabolites with 6 measures of glucose/insulin homeostasis were examined in similar models. A Bonferroni correction was applied …

Personhood, Politics, Assisted Reproduction, And The Law Post-Dobbs, Myrisha S. Lewis

Faculty Publications

With the end of the federal constitutional right to abortion, state legislatures and state courts have become far more important in the sphere of reproductive rights. Before Dobbs, anti-abortion advocates had significant (albeit increasingly porous) ceilings on what they could prohibit in relation to reproductive health care. A significant check on those actions is now gone.

In the wake of Dobbs, societal debates about personhood have increased and expanded in terms of their practical implications. Before Dobbs, anti-abortion advocates admitted that Roe and subsequent cases limited the scope of their arguments, especially in relation to the legality …

Racing Latinidad, Renee Hudson

English Faculty Books and Book Chapters

This chapter argues that the terms “Latinx” and “latinidad” are messy signifiers that allow us to contend with Latinx’s complicated racial history. While the term Latinx continues to be controversial, and scholars such as Tatiana Flores have examined the case for cancelling latinidad, “Racing Latinidad” points to how latinidad can signify particular political commitments and affinities. Through readings of Manuel Muñoz’s What You See in the Dark (2011) and Dahlma Llanos-Figueroa’s Daughters of the Stone (2009), this chapter illuminates how excavating racial histories outside the logic of the state is a way to summon a politics to imagine a people. …

Experiences Of Midwestern Obstetric Clinicians During The Coronavirus Disease 2019 Pandemic, Drishti D Sinha, Megan Foeller, Abigail S Bell, Anthony J Nixon, Darrell Hudson, Aimee S James, Amy R Scheffer, Ana A Baumann, Emily Diveley, Ebony B Carter, Nandini Raghuraman, Indira U Mysorekar, Jeannie C Kelly

Faculty, Staff and Students Publications

BACKGROUND: The Coronavirus disease 2019 (COVID-19) pandemic led to healthcare system changes aimed at minimizing disease transmission that impacted experiences with obstetric healthcare.

OBJECTIVE: To explore experiences of clinicians providing obstetric care during the COVID-19 pandemic.

STUDY DESIGN: Qualitative, in-depth, semi-structured interviews were conducted with five nurse practitioners and 16 obstetrical physicians providing a mix of outpatient and inpatient obstetric care during the COVID-19 pandemic in a mid-sized, Midwestern city in the United States. Interviews elucidated challenges and facilitators of obstetric care provision and vaccination of pregnant patients against COVID-19 during the pandemic. Transcripts were coded inductively then deductively using …

Automated Electronic Health Record Data Extraction And Curation Using Extractehr, Tamara P Miller, Kelly D Getz, Edward Krause, Yun Gun Jo, Sandhya Charapala, M Monica Gramatages, Karen Rabin, Michael E Scheurer, Jennifer J Wilkes, Brian T Fisher, Richard Aplenc

Center for Medical Ethics and Health Policy Staff Publications

Purpose: Although the potential transformative effect of electronic health record (EHR) data on clinical research in adult patient populations has been very extensively discussed, the effect on pediatric oncology research has been limited. Multiple factors contribute to this more limited effect, including the paucity of pediatric cancer cases in commercial EHR-derived cancer data sets and phenotypic case identification challenges in pediatric federated EHR data.

Methods: The ExtractEHR software package was initially developed as a tool to improve clinical trial adverse event reporting but has expanded its use cases to include the development of multisite EHR data sets and the support …

Tfeb Controls Syncytiotrophoblast Formation And Hormone Production In Placenta, Marcella Cesana, Gennaro Tufano, Francesco Panariello, Nicolina Zampelli, Chiara Soldati, Margherita Mutarelli, Sandro Montefusco, Giuseppina Grieco, Lucia Vittoria Sepe, Barbara Rossi, Edoardo Nusco, Giada Rossignoli, Giorgia Panebianco, Fabrizio Merciai, Emanuela Salviati, Eduardo Maria Sommella, Pietro Campiglia, Graziano Martello, Davide Cacchiarelli, Diego Luis Medina, Andrea Ballabio

Duncan NRI Faculty and Staff Publications

TFEB, a bHLH-leucine zipper transcription factor belonging to the MiT/TFE family, globally modulates cell metabolism by regulating autophagy and lysosomal functions. Remarkably, loss of TFEB in mice causes embryonic lethality due to severe defects in placentation associated with aberrant vascularization and resulting hypoxia. However, the molecular mechanism underlying this phenotype has remained elusive. By integrating in vivo analyses with multi-omics approaches and functional assays, we have uncovered an unprecedented function for TFEB in promoting the formation of a functional syncytiotrophoblast in the placenta. Our findings demonstrate that constitutive loss of TFEB in knock-out mice is associated with defective formation of …

Disparities In Cognitive Decline Along The Texas-Mexico Border: Insights From The 2021 Brfss, Bianca D. Valenzuela

Health and Kinesiology Theses

The aging global population has brought increased attention to cognitive health and early detection of cognitive decline. Subjective Cognitive Decline (SCD), defined as self-reported memory or thinking problems, is an early marker of neurodegenerative diseases. Despite growing research, gaps remain in understanding how geographic disparities influence SCD prevalence and contributing factors. The Texas-Mexico border region, predominantly Hispanic and facing unique socioeconomic and health care challenges, offers a unique context to explore these influences. The purpose of this study was to examine the prevalence of SCD and related functional limitations in Texas-Mexico border counties versus non-border counties, using 2021 Behavioral Risk …

Sculpting Success: The Importance Of Diet And Physical Activity To Support Skeletal Muscle Health During Weight Loss With New Generation Anti-Obesity Medications, Gregory J. Grosicki, Nikhil V. Dhurandhar, Jessica L. Unick, Shawn M. Arent Ph.D., Cscs*D, Fissn, Facsm, Fnak, J. Graham Thomas, Holly Lofton, Madelyn C. Shepherd, Jessica Kiel, Christopher Coleman, Satya S. Jonnalagadda

Faculty Publications

Obesity is a public health crisis, with prevalence rates tripling over the past 60 y. Although lifestyle modifications, such as diet and physical activity, remain the first-line treatments, recent anti-obesity medications (AOMs) have been shown to achieve greater reductions in body weight and fat mass. However, AOMs also reduce fat-free mass, including skeletal muscle, which has been demonstrated to account for 20% to 50% of total weight loss. This can equate to ∼6 kg or 10% of total lean mass after 12–18 mo, a loss comparable to a decade of human aging. Despite questions surrounding the clinical relevance of weight …

Bostock And The Forgotten Eeoc, Sandra F. Sperino

Faculty Publications

In Bostock v. Clayton County, Georgia, the Supreme Court formally recognized that federal discrimination law prohibits discrimination based on sexual orientation and gender identity. The opinion barely mentioned the Equal Employment Opportunity Commission (EEOC), the federal agency charged with enforcing federal discrimination law. Reading Bostock, it would be easy to get the impression that the EEOC played little to no role in the outcome. This Essay reclaims and restores the EEOC's role.

In restoring the EEOC's role in this story, two themes emerge. First, Bostock's methodology erases the administrative agency tasked with enforcing Title VII in ways that are inconsistent …

Co-Creating Experiences Through The Use Of Arts In Social Work Education, Keiron Hatton, Tracey Maegusuku-Hewett, Jo Redcliffe

School of Social Work Faculty Publications

The inclusion of citizens in social work education was initiated over 30 years ago and continues to travel a ‘long and winding road’. Social work education in the UK faces increasing pressure from a range of stakeholders including citizens who use services, regulatory bodies and the media to demonstrate that newly qualified social workers are competent and uphold public trust. While social work education and practice within England and Wales draw on similar traditions in theory and practice, there are important differences in the national and institutional frameworks within which they operate. This article illustrates some of these differences through …

Is Sunlight The Best Disinfectant? The Role Of Regulation In Addressing Cybersecurity Concerns, Reagan Leverett

Vanderbilt Law Review

The technological landscape in the United States is changing rapidly, and this transformation carries with it unprecedented challenges for administrators, companies, and investors alike. In particular, cybersecurity concerns are growing in light of the new opportunities for cyber malfeasance in this landscape—opportunities to pillage corporate databases and exploit the sensitive consumer information housed therein. For administrators, these new threats challenge prevailing regulatory frameworks and demand novel solutions. For companies, this landscape brings financial and reputational threats. For stakeholders, the cyber era presents the risk of investment losses and, in some cases, loss of personal data.

The Securities and Exchange Commission …

College Council Newsletter (November 2024), Dmacc

College Council

No abstract provided.

Poem No. 132, November 2024, Huntsville Literary Association (Huntsvile, Ala.)

POEM

The Huntsville Literary Association was founded in 1967 to provide a community for writers, readers, and artists through workshops, readings, and educational programs. One of their key contributions is the literary magazine titled POEM which showcases original writings from both established and emerging writers. This issue features poems from various writers.

Active Ageing : Pension System And Older Workers Policies In Hong Kong And Japan, Hin Yau Tsang

SOC 605 Comparative Social Policy Research Project - Student Works

Since the growing trend of aging is now a threat around the globe, there is more and more attention being devoted to the right of the elderly to participate and engage in the workplace. In order to provide policy recommendations for government departments to expedite the work environment for older people and support their integration into or return to the workplace, this paper investigates the difference of the pension system and older workers policies present in Hong Kong and Japan by secondary research methods. Currently, there are multiple investigations on the older workers’ working reasons and challenges, however, there are …

Online Eye Tracking For Aphasia: A Feasibility Study Comparing Web And Lab Tracking And Implications For Clinical Use, Willem S. Van Boxtel, Michael Linge, Rylee Manning, Lily N. Haven, Jiyeon Lee

Faculty Publications

Background & Aims: Studies using eye-tracking methodology have made important contributions to the study of language disorders such as aphasia. Nevertheless, in clinical groups especially, eye-tracking studies often include small sample sizes, limiting the generalizability of reported findings. Online, webcam-based tracking offers a potential solution to this issue, but web-based tracking has not been compared with in-lab tracking in past studies and has never been attempted in groups with language impairments. Materials & Methods: Patients with post-stroke aphasia (n = 16) and age-matched controls (n = 16) completed identical sentence-picture matching tasks in the lab (using an EyeLink system) and …

Validation Of The Quick Mild Cognitive Impairment Screen In An American Sample Of Patients With Mild Cognitive Impairment And Mild Dementia, Dariella A. Fernandez, Suzanne Schmitz, Heather Foil, Robert Brouillette, Jeffrey N. Keller, Robin C. Hilsabeck

Clinical Research Faculty Publications

Objective: Early detection of cognitive impairment is critical for patient outcomes, yet cognitive impairment is under identified in primary care settings largely due to time constraints. The Quick Mild Cognitive Impairment (Qmci) screen was developed to address the need for a short cognitive screening instrument (< 5 min) that is sensitive to early cognitive change but has not been validated in the United States (US). The objective of this study was to examine the classification accuracy of the Qmci in participants from two memory specialty (e.g., secondary outpatient) clinics in the US. Methods: Participants were 152 older adults: 87 participants were cognitively normal (CN), 48 were diagnosed with mild cognitive impairment (MCI) and 17 were diagnosed with mild dementia (DEM). Classification accuracy of the Qmci and Mini Mental State Examination (MMSE) were compared in participants with and without cognitive impairment. Results: The Qmci demonstrated higher classification accuracy in differentiating CN from cognitively impaired participants (i.e., MCI and DEM) (AUC = 0.82) than the MMSE (AUC = 0.77). The optimal cut-off score for the Qmci was < 67, which achieved a sensitivity of 79% and specificity of 80%. The optimal MMSE cut-off score was < 27, which achieved a sensitivity of 97% and specificity of 43%. Conclusions: The Qmci is a valid cognitive screening instrument for detecting early stages of cognitive impairment in memory clinic samples in the US. Its short administration time and increased specificity for detecting MCI make it an attractive option for use in primary care settings. Further validation of the Qmci is needed, specifically within primary care settings.

Cultural Predictors Of Self-Esteem Among Black Women With Criminal Justice Involvement And Herpes Simplex Virus, Natalie Malone, Jardin N. Dogan-Dixon, Shemeka Thorpe, Shawndaya S. Thrasher, Paris Wheeler, Danelle Stevens-Watkins, Carrie B. Oser

Faculty Publications

Black women have disproportionately alarming HSV-2 infection rates yet receive little attention in sexual health literature. Using a strengths-based resilience framework, this study sought to determine culturally relevant protective predictors of self-esteem for Black women who are justice-involved and have HSV-2. The authors conducted secondary data analysis on data from the “Black Women in the Study of Epidemics (B-WISE) Project,” a longitudinal prospective study investigating health disparities and health services utilization among Black women with justice involvement. At baseline, N = 151 Black women with HSV-2 who were incarcerated or on probation completed survey measures assessing self-esteem, ethnic identity affirmation …

Juror Privacy Via Anonymity, Jayne S. Ressler

Faculty Scholarship

No abstract provided.

Autonomous Coalition Formation For Energy Trading In Intelligent Grid Systems, Issiac Baca

Electrical and Computer Engineering ETDs

This paper introduces an interactive model and architectural framework for a smart grid system, emphasizing the prosumers dual roles as energy buyers and sellers within localized energy trading markets, i.e., coalitions. Initially, the utilities of both buyers and sellers are formulated to capture the benefits derived from their energy-related activities. Then, the paper presents the Approximate SMARTFORM (ASMARTFORM) mechanism, based on the principles of matching theory, to enhance the prosumers engagement in coalitions by addressing externalities influencing their decisions. To further improve the coalition formation process, the Accurate SMARTFORM (AccSMARTFORM) mechanism is formulated based on the theory of coalition games, …

Association Of Chronic Malnutrition, And Not Anemia, With Cognitive Development In Ethiopian Schoolchildren: A Cross-Sectional Study, Befikadu Tariku Gutema, Muluken Bekele Sorrie, Sifray Batire, Tadiwos Hailu Zewdie, Bruno Levecke, Amina Abubakar, Stefaan De Henauw, Souheila Abbeddou

Institute for Human Development, East Africa

This study assesses the associations between nutritional statusand cognitive development of schoolchildren. A unit increase inheight-for-age Z-score was associated with 0.12 SD, 0.08 SD and0.12 SD increase in standardized digit span, Raven’s coloredprogressive metrics, and performance index of visual searchtask, respectively. A unit increase in body-mass-index-for-ageZ-score was associated with 0.11 SD increase in standardizeddigit span. Hemoglobin concentration was not associated withany of the cognitive outcomes. Chronic malnutrition was asso-ciated with cognitive development in schoolchildren while thin-ness and hemoglobin concentrations were associated withselected or no cognitive outcomes, respectively.

An 8-Year Review Of Upper Limb Congenital Differences At A Teaching Hospital In Jordan: A Retrospective Study, Omar Q. Samarah, Ayham M. Odeh, Zaid M. Alkhadire, Yazeed Y. Diab, Leen N. Yousef, Yazan S. Hammad, Mohamad S. Yasin

Saudi Medical Journal

Objectives: To review the types of upper limb congenital differences in patients seen in a tertiary hospital in Jordan and to evaluate the effectiveness of the Oberg-Manske-Tonkin (OMT) system. Methods: The medical charts and the X-rays of 222 patients with upper limb congenital differences were reviewed. All these cases were categorized using the OMT classification system. Results: A careful review of the medical charts identified 222 patients with 295 upper extremity anomalies. The prevalence was 45/10000 patients. The mean age of the patients was 6.18±5.5 years, with a higher prevalence in males 54.1%. most cases were malformations 176 (79%) and …

From Biased Data Inputs To Your Discriminatory Diagnosis Outputs: A Review Of Legal Liability For Artificial Intelligence In Healthcare, Amber Bolden

Michigan Technology Law Review

While health disparities in America occur due to non-medical circumstances, certain protected classes experience healthcare disparities due to the biases of medical professionals. Biased diagnoses, both intentional or unintentional, have existed throughout the history of the medical profession. That those biases are becoming data for training algorithms raises concerns as the medical field increasingly incorporates and standardizes artificial and augmented intelligence in patient diagnosis and treatment. Currently unregulated but with lifedetermining potential, artificial intelligence (AI) when used in patient treatment leads to important questions: should the doctor, the provider, or the AI developers be liable, and for what? Section II …

Unl Emeriti And Retirees Association Newsletter, November 2024

UNL Emeriti and Retirees Association: Newsletters and Other Materials

University of Nebraska-Lincoln Emeriti and Retirees Association Newsletter, November 2024

Aging In Hanover: A Community Needs Assessment, Caitlin E. Coyle, Beth Rouleau, Ceara Somerville

Center for Social and Demographic Research on Aging Publications

This report describes research undertaken by the Center for Social & Demographic Research on Aging (CSDRA), within the Gerontology Institute at the University of Massachusetts Boston, on behalf of the Town of Hanover. The report supports the Council on Aging’s objective to identify and serve the needs of residents age 55 and older. The contents of this report are meant to inform the Town of Hanover, the Hanover Council on Aging (COA), the Senior Center, and organizations that work with and on behalf of older residents of Hanover for the purposes of COA mission fulfillment alongside planning and coordination of …

Identifying Ordinal Categories For The Water Insecurity Experiences Scales, Edward A. Frongillo Jr., Hilary J. Bethancourt, Joshua D. Miller, Sera L. Young, The Household Water Insecurity Experiences Scales (Hwise)-Research Coordination Network (Rcn)

Faculty Publications

The Household Water Insecurity Experiences (HWISE) and Individual Water Insecurity Experiences (IWISE) Scales are globally suitable tools for comparably measuring water insecurity experiences among households and adults, respectively. The potential range for HWISE and IWISE scores is 0–36. When the WISE Scales were first published, scores of 12 and higher were considered indicative of water insecurity, but additional cut-points are needed to provide more nuanced insights. We therefore sought to develop a practical set of cut-points for the WISE Scales using HWISE data from 13 sites across 12 countries (n = 3,293) and nationally representative samples of IWISE data …

Editor's Note, Padraig O'Malley

New England Journal of Public Policy

Editor's Note. Volume 36, Issue 2 of the New England Journal of Public Policy.

Second Symposium Discussion, Carrie Cheng, Shigeyuki Mori

New England Journal of Public Policy

Second Symposium Discussion. Volume 36, Issue 2 of the New England Journal of Public Policy.

Media's Responsibility For The War: The Picture Book Faithful Elephants, Read As A Descendant Of A State-Sponsored News Agency, Hisashi Sasaki

New England Journal of Public Policy

Media's Responsibility for the War: the Picture Book Faithful Elephants, Read as a Descendant of a State-Sponsored News Agency. Volume 36, Issue 2 of the New England Journal of Public Policy.