Digital Commons Network^™

Germline Genetic Testing And Survival Outcomes Among Children With Rhabdomyosarcoma: A Report From The Children's Oncology Group, Bailey A Martin-Giacalone, He Li, Michael E Scheurer, Dana L Casey, Shannon Dugan-Perez, Deborah A Marquez-Do, Donna Muzny, Richard A Gibbs, Donald A Barkauskas, David Hall, Douglas R Stewart, Joshua D Schiffman, Matthew T Mcevoy, Javed Khan, David Malkin, Corinne M Linardic, Brian D Crompton, Jack F Shern, Stephen X Skapek, Rajkumar Venkatramani, Douglas S Hawkins, Aniko Sabo, Sharon E Plon, Philip J Lupo

Faculty, Staff and Students Publications

IMPORTANCE: Determining the impact of germline cancer-predisposition variants (CPVs) on outcomes could inform novel approaches to testing and treating children with rhabdomyosarcoma.

OBJECTIVE: To assess whether CPVs are associated with outcome among children with rhabdomyosarcoma.

DESIGN, SETTING, AND PARTICIPANTS: In this cohort study, data were obtained for individuals, aged 0.01-23.23 years, newly diagnosed with rhabdomyosarcoma who were treated across 171 Children's Oncology Group sites from March 15, 1999, to December 8, 2017. Data analysis was performed from June 16, 2021, to May 15, 2023.

EXPOSURE: The presence of a CPV in 24 rhabdomyosarcoma-associated cancer-predisposition genes (CPGs) or an expanded set …

Expanded Clinical Phenotype And Untargeted Metabolomics Analysis In Rars2-Related Mitochondrial Disorder: A Case Report, Ameya S Walimbe, Keren Machol, Stephen F Kralik, Elizabeth A Mizerik, Yoel Gofin, Mir Reza Bekheirnia, Charul Gijavanekar, Sarah H Elsea, Lisa T Emrick, Fernando Scaglia

Faculty, Staff and Students Publications

Background

RARS2-related mitochondrial disorder is an autosomal recessive mitochondrial encephalopathy caused by biallelic pathogenic variants in the gene encoding the mitochondrial arginyl-transfer RNA synthetase 2 (RARS2, MIM *611524, NM_020320.5). RARS2 catalyzes the transfer of L-arginine to its cognate tRNA during the translation of mitochondrially-encoded proteins. The classical presentation of RARS2-related mitochondrial disorder includes pontocerebellar hypoplasia (PCH), progressive microcephaly, profound developmental delay, feeding difficulties, and hypotonia. Most patients also develop severe epilepsy by three months of age, which consists of focal or generalized seizures that frequently become pharmacoresistant and lead to developmental and epileptic encephalopathy (DEE). …

Integrating Genome Sequencing And Untargeted Metabolomics In Monozygotic Twins With A Rare Complex Neurological Disorder, Rulan Shaath, Aljazi Al-Maraghi, Haytham Ali, Jehan Alrayahi, Adam D Kennedy, Karen L Debalsi, Sura Hussein, Najwa Elbashir, Sujitha S Padmajeya, Sasirekha Palaniswamy, Sarah H Elsea, Ammira A Akil, Noha A Yousri, Khalid A Fakhro

Faculty, Staff and Students Publications

Multi-omics approaches, which integrate genomics, transcriptomics, proteomics, and metabolomics, have emerged as powerful tools in the diagnosis of rare diseases. We used untargeted metabolomics and whole-genome sequencing (WGS) to gain a more comprehensive understanding of a rare disease with a complex presentation affecting female twins from a consanguineous family. The sisters presented with polymicrogyria, a Dandy–Walker malformation, respiratory distress, and multiorgan dysfunctions. Through WGS, we identified two rare homozygous variants in both subjects, a pathogenic variant in ADGRG1(p.Arg565Trp) and a novel variant in CNTNAP1(p.Glu910Val). These genes have been previously associated with autosomal recessive polymicrogyria and hypomyelinating neuropathy with/without …

Adipose Triglyceride Lipase Is A Therapeutic Target In Advanced Prostate Cancer That Promotes Metabolic Plasticity, Dominik Awad, Pham Hong Anh Cao, Thomas L Pulliam, Meredith Spradlin, Elavarasan Subramani, Tristen V Tellman, Caroline F Ribeiro, Riccardo Muzzioli, Brittany E Jewell, Hubert Pakula, Jeffrey J Ackroyd, Mollianne M Murray, Jenny J Han, Mei Leng, Antrix Jain, Badrajee Piyarathna, Jingjing Liu, Xingzhi Song, Jianhua Zhang, Albert R Klekers, Justin M Drake, Michael M Ittmann, Cristian Coarfa, David Piwnica-Worms, Mary C Farach-Carson, Massimo Loda, Livia S Eberlin, Daniel E Frigo

Faculty, Staff and Students Publications

UNLABELLED: Lipid metabolism plays a central role in prostate cancer. To date, the major focus has centered on de novo lipogenesis and lipid uptake in prostate cancer, but inhibitors of these processes have not benefited patients. A better understanding of how cancer cells access lipids once they are created or taken up and stored could uncover more effective strategies to perturb lipid metabolism and treat patients. Here, we identified that expression of adipose triglyceride lipase (ATGL), an enzyme that controls lipid droplet homeostasis and a previously suspected tumor suppressor, correlates with worse overall survival in men with advanced, castration-resistant prostate …

Adipose Tissue Dysfunction And Energy Balance Paradigms In People Living With Hiv, Claudia E Ramirez Bustamante, Neeti Agarwal, Aaron R Cox, Sean M Hartig, Jordan E Lake, Ashok Balasubramanyam

Faculty, Staff and Students Publications

Over the past 4 decades, the clinical care of people living with HIV (PLWH) evolved from treatment of acute opportunistic infections to the management of chronic, noncommunicable comorbidities. Concurrently, our understanding of adipose tissue function matured to acknowledge its important endocrine contributions to energy balance. PLWH experience changes in the mass and composition of adipose tissue depots before and after initiating antiretroviral therapy, including regional loss (lipoatrophy), gain (lipohypertrophy), or mixed lipodystrophy. These conditions may coexist with generalized obesity in PLWH and reflect disturbances of energy balance regulation caused by HIV persistence and antiretroviral therapy drugs. Adipocyte hypertrophy characterizes visceral …

Medical Home Implementation And Follow-Up Of Cancer-Related Abnormal Test Results In The Veterans Health Administration, Suja S Rajan, Shashank Sarvepalli, Li Wei, Ashley N D Meyer, Daniel R Murphy, Debra T Choi, Hardeep Singh

Faculty, Staff and Student Publications

IMPORTANCE: Lack of timely follow-up of cancer-related abnormal test results can lead to delayed or missed diagnoses, adverse cancer outcomes, and substantial cost burden for patients. Care delivery models, such as the Veterans Affairs' (VA) Patient-Aligned Care Team (PACT), which aim to improve patient-centered care coordination, could potentially also improve timely follow-up of abnormal test results. PACT was implemented nationally in the VA between 2010 and 2012.

OBJECTIVE: To evaluate the long-term association between PACT implementation and timely follow-up of abnormal test results related to the diagnosis of 5 different cancers.

DESIGN, SETTING, AND PARTICIPANTS: This multiyear retrospective cohort study …

The Genetic Basis Of Hydrocephalus: Genes, Pathways, Mechanisms, And Global Impact, Andrew T Hale, Jennifer M Strahle, Et Al.

2020-Current year OA Pubs

Hydrocephalus (HC) is a heterogenous disease characterized by alterations in cerebrospinal fluid (CSF) dynamics that may cause increased intracranial pressure. HC is a component of a wide array of genetic syndromes as well as a secondary consequence of brain injury (intraventricular hemorrhage (IVH), infection, etc.) that can present across the age spectrum, highlighting the phenotypic heterogeneity of the disease. Surgical treatments include ventricular shunting and endoscopic third ventriculostomy with or without choroid plexus cauterization, both of which are prone to failure, and no effective pharmacologic treatments for HC have been developed. Thus, there is an urgent need to understand the …

Reports Of Covid-19 Vaccine Adverse Events In Predominantly Republican Vs Democratic States, David A Asch, Chongliang Luo, Yong Chen

2020-Current year OA Pubs

IMPORTANCE: Antivaccine sentiment is increasingly associated with conservative political positions. Republican-inclined states exhibit lower COVID-19 vaccination rates, but the association between political inclination and reported vaccine adverse events (AEs) is unexplored.

OBJECTIVE: To assess whether there is an association between state political inclination and the reporting rates of COVID-19 vaccine AEs.

DESIGN, SETTING, AND PARTICIPANTS: This cross-sectional study used the AE reports after COVID-19 vaccination from the Vaccine Adverse Event Reporting System (VAERS) database from 2020 to 2022, with reports after influenza vaccines from 2019 to 2022 used as a reference. These reports were examined against state-level percentage of Republican …

Survival In Patients With De Novo Metastatic Prostate Cancer, Martin W Schoen, R Bruce Montgomery, Lukas Owens, Saira Khan, Kristen M Sanfilippo, Ruth B Etzioni

2020-Current year OA Pubs

No abstract provided.

Review Of Poverty, By America, Linda Plitt Donaldson

The Journal of Social Encounters

No abstract provided.

Book Discussion "Innovations In Peace And Security In Africa"

The Journal of Social Encounters

No abstract provided.

Review Of The Intersectional Environmentalist: How To Dismantle Systems Of Oppression To Protect People + Planet, Raymond Appiah

The Journal of Social Encounters

No abstract provided.

Review Of Water Management And Violent Conflict In East Africa: Scarcity And Security In Kenya And Uganda, Ken Conca

The Journal of Social Encounters

No abstract provided.

In Memory Of Bishop Paride Taban, Sara Ketelaar, Fr. Peter Mbaro, John Ashworth, Fr. Joseph G. Healey, Rosanne Fischer, William O’Keefe

The Journal of Social Encounters

The Journal of Social Encounters mourns the loss, and celebrates the life, of the much-loved Bishop Paride Taban. We thank our authors below for sharing their reflections on him. In his memory, we also re-print an essay about him by Alberto Eisman Torres, A Beacon of Hope in a Troubled Context: Sketches of the Life of Mons. Paride Taban, Shepherd and Bridge-builder, an essay in our special collection on Peace Bishops. I was blessed to know Bisop Taban, and would see him in Nairobi and in Minnesota. One of his associates was a student of mine at the Catholic …

Peace Bishop: Bishop Nicolas Djoma Lola -- Bishop Of Tshumbé, Stephen R. Hilbert

The Journal of Social Encounters

Fr. Nicolas Djomo Lola was appointed a bishop in the Democratic Republic of the Congo (DRC) in 1997 and immediately was thrust into a brutal war between Rwanda, Burundi and Zaire that lasted through 2003. That conflict exacerbated deadly ethnic conflicts in the eastern provinces of the Congo that continue to this day. Bishop Djomo, driven by his belief that Jesus Christ calls all people to build peace, and protect people from violence responded to this war and chaos in remarkable ways. He led a delegation of the Central Africa Bishops to advocate with the Presidents of Burundi, Rwanda and …

Relational Leadership And Governing: Somali Clan Cultural Leadership, Farhia Abdi

The Journal of Social Encounters

This research is focused on exploring the distinction between theories of leadership and more contemporary visions of relational leading. In order to do so, the specific case of traditional clan structure seen in the Somali state will be examined, and parallels between the two will be drawn. This paper argues that the old Somali tradition shares much in common with current writing on relational leadership (Uhl-Bien, 2006) and, therefore, can expand our understanding and support for a form of leadership that transcends traditional, individualist, hierarchical leadership. This argument will be supported by a detailed investigation into clan politics, leadership, and …

A Short Supplemental Reading List For The Environment: Issues In Justice, Conflict And Peacebuilding, Ronald Pagnucco

The Journal of Social Encounters

No abstract provided.

Eco-Virtue Ethics And Anthropological Commitments Of Laudato Si’ And Laudate Deum: Towards A Renewed Integral Ecology, Ugochukwu Stophynus Anyanwu

The Journal of Social Encounters

The Fourth Chapter of Laudato Si’ (LS) of Pope Francis deals with the theme of ‘Integral Ecology’ from a religious tradition. This chapter can be interpreted as the fulcrum of the encyclical because of the density of its anthropological and ethical considerations. The theme of this chapter has informed a more emphatic presentation in the apostolic exhortation Laudate Deum (LD) on the climatic challenges confronting humanity. Both documents, with incomparable courage and novelty, offer enriching ethical discourses for advancing social, cultural, and human ecology in consonance with social justice, common good, solidarity, and subsidiarity. They contain the magisterial appeal that …

Guns, Bombs, And Pollution: Unraveling The Nexus Between Warfare, Terrorism, And Ecological Devastation In Iraq, Hogr Tarkhani

The Journal of Social Encounters

Iraq's environment has experienced significant pollution and degradation, earning it the dubious distinction of being one of the most polluted and degraded regions globally, according to the Globe Pollution Review. The past three decades of armed conflict have exacted a heavy toll on the country, resulting in widespread human suffering, including countless fatalities, injuries, and a massive displacement of people. Amidst this death and destruction, the ecosystem has also endured severe damage, and its decline carries long-lasting implications.

The environmental crisis in Iraq has been worsened by the presence of extremist groups such as the Islamic State (ISIS) and various …

On Dialogue And Beyond: Positive Environmental Peacebuilding In Palestine, Elsa Barron

The Journal of Social Encounters

In Palestine, environmental management has been used as a tool of military occupation and oppression. Yet even within that context, many community-based organizations have established programs relating to environmental peacebuilding. Of these initiatives, environmental dialogue programs have received significant attention and resources, even more so since the war in Gaza began in October, 2023. However, a deeper interrogation of these programs reveals the danger that dialogue and collaboration devoid of a critical analysis of power and injustice further perpetuates systemic oppression. Moving these programs into the realm of positive environmental peacebuilding requires a willingness to engage in this structural analysis. …

Environmental Peacebuilding: Yesterday, Today, And Tomorrow, Ken Conca

The Journal of Social Encounters

The field of environmental peacebuilding emerged as a counter to the idea that violent conflict was an inevitable byproduct of environmental change. Two decades ago, my colleague Geoffrey Dabelko and I published a book, Environmental Peacemaking, sketching the argument that ecological interdependencies could be instrumentalized as a force for peace (Conca & Dabelko, 2002). Other early works from this period focused on the peace opportunities in biodiversity conservation (Matthew et al., 2002) and transboundary protected areas (Brock, 1991; Ali, 2007). Since that time, a substantial community of research and practice has emerged around these ideas. In this essay I discuss …

Prenatal, Perinatal And Postnatal Risk Factors Associated With Autism Spectrum Disorder In Palestine: A Case-Control Study, Mustafa Ghanim, Mariam Al-Tell, Samaa Staiti, Maha Rabayaa, Johnny Amer, Malik Alqub, Sameeha Atout, Nihad Al-Othman, Marwa Ismail

An-Najah University Journal for Research - B (Humanities)

Background: Autism spectrum disorder (ASD) is a multifactorial neurodevelopment disorder. Several prenatal, perinatal, and postnatal factors are suggested as risk factors for ASD. This study aimed to correlate prenatal, perinatal, and postnatal factors in a limited number of ASD cases in Palestine. Methods: A case-control study involved 120 children (60 typically diagnosed with ASD and 60 healthy matched with the ASD group). The parents of the children in both groups were asked to fill out the questionnaire. Results: The study showed a higher male-to-female ratio in the ASD group. A family history of ASD was reported in 38.3% of the …

The Attitudes Of Islamic Educational Teachers' Towards E-Learning In Light Of Corona Pandemic In The District Of Education At Al-Qasr Region: Karak Governorate, Zeyad Ahmad Limoun

An-Najah University Journal for Research - B (Humanities)

The study aimed to identify the attitudes of Islamic educational teachers towards E-learning in light of the Corona pandemic in the Directorate of Education at Al-Qasr region, and the effects of the following variables (Gender, Academic Qualification, and Years of Experience). To achieve the study’s objectives, the researcher followed the technique of descriptive approach. The sample consisted of (100) teachers. The study tool consisted of (30) items were built to measure trends towards E-learning. The validity and reliability were verified. The results of the study indicated that, the attitudes of Islamic education teachers towards E-learning in light of the Corona …

The Relationship Between Psychological Capital And Self-Compassion Among Yarmouk University Teachers, Mai Ahmad Muheidat, Mohammad M. Al-Anqara

An-Najah University Journal for Research - B (Humanities)

This study aimed to find out the relationship between psychological capital and self-compassion among Yarmouk University teachers. The study sample consisted of (104) teachers from Yarmouk University who were selected randomly. To achieve the objectives of the study, the two researchers used the psychological capital scale and the self-compassion scale. The appropriate random design was used for the sample, and the results showed a positive correlation between psychological capital and self-compassion and also revealed a negative correlation between the two dimensions of isolation and excessive autism with psychological capital among Yarmouk University teachers. The study recommended the need to implement …

Returning To School After A Pandemic: K-6 Special Education Teachers Perspectives On Students With Disabilities Returning To School In Regard To Mindset, Behavior, Social Connections, And Academic Achievement, Andrea Xenios

Dissertations

Purpose: The purpose of this phenomenological study was to determine K-6 special education educators’ perceptions of the impact on students with disabilities returning to school after the trauma of a pandemic for 2 years with regard to behavior, academic achievement, mindset, and social connections.

Methodology: This qualitative study interviewed 10 special education teachers who taught before, during, and after the pandemic in Orange County, CA. Semi-structured open ended interview questions was the main source of data collection with other sources including observations, and artifacts. Data was coded and the researcher analyzed the data for themes and patterns.

Findings: The study …

Predicting Gratitude Based On Personality Traits: A Meta-Analysis, Nancy Frye, Selenay Aytac, Michele M. Dornisch

Post Library Faculty Publications

Research demonstrates benefits of gratitude, ranging from health to behavior. Interventions can increase it, but gratitude also has trait-like properties. Although investigations of gratitude control for personality, the relationship of gratitude and other personality traits can provide insight into the nature of gratitude. We systematically searched PsycINFO, PsycArticles, PubMed, Scopus, and Web of Science according for empirical articles published in English prior to February 8, 2024. Out of 43 included studies, we examined thirty published studies that included correlations between gratitude and the dimension of the Big Five. Confidence intervals computed across studies suggest that gratitude is related with each …

Treatment And Mortality Following Cancer Diagnosis Among People With Non-Affective Psychotic Disorders In Ontario, Canada: A Retrospective Cohort Study, Jared C. Wootten, Lucie Richard, Melody Lam, Phillip S. Blanchette, Marco Solmi, Kelly K. Anderson

Epidemiology and Biostatistics Publications

Background and Hypothesis People with psychotic disorders have a higher risk of mortality following cancer diagnosis, compared to people without psychosis. The extent to which this disparity is influenced by differences in cancer-related treatment is currently unknown. We hypothesized that, following a cancer diagnosis, people with psychotic disorders were less likely to receive treatment and were at higher risk of death than those without psychosis. Study Design We constructed a retrospective cohort of cases of non-affective psychotic disorder (NAPD) and a general population comparison group, using Ontario Health (OH) administrative data. We identified cases of all cancers diagnosed between 1995 …

What Special Education Teachers Need To Remain: A Qualitative Study, Corey Michael Sharp

Theses and Dissertations

The persistent challenge of teacher attrition, particularly in special education positions, is examined within the context of the East Dillon School District in Dillon, IL. Despite efforts to recruit and retain special education teachers, vacancies remain unfilled, leading to a disruption to the educational experiences of students with disabilities and the practice of special education teachers lacking training and support. This phenomenological qualitative research study examined the experiences of six special education teachers at Lion Middle School. Using Job Embeddedness Theory, Ethics of Care, and Aptitude-Treatment Interaction Theory as the conceptual framework, this study sought to provide the training and …

“You Take My Place; Let’S Switch!” What It Means To Be A Woman Powerlifter In Parasport, Aaron Carl S. Seechung, Maria Luisa M. Guinto

The Qualitative Report

Gendered disability in elite sport has emerged as a pertinent area of inquiry in sport psychology. However, qualitative research aimed at amplifying the voices of marginalized subgroups is notably sparse. Employing a phenomenological approach, we examined the lived experience of a Filipina para powerlifter, probing the intersection of gender, disability, and socioeconomic status in shaping how the participant made sense of life and identity, both within and outside the realm of sport. Three personal experiential themes were generated from the interview data's interpretative phenomenological analysis: “survival of the fittest,” “the voices in my head did not allow me to give …

How To Develop A Qualitative Evaluation Plan For A Complex National Intervention: Key Steps And Reflections From The Radx-Up Program, Shelly A. Maras, Josephine Mckelvy, Kelley Milligan, Allyson Kelley, Valerie A. Lucas, Tara Carr, Abisola Osinuga, Leah Frerichs, Gaurav Dave

The Qualitative Report

This article describes the formative process of developing and implementing a Qualitative Evaluation Plan (QEP) for a large-scale, National Institute of Health (NIH) supported program: Rapid Acceleration of Diagnostics — Underserved Populations (RADx-UP). RADx-UP includes over 137 projects in the United States that aim to ensure that all Americans have access to timely, accurate diagnostics for COVID-19, with a specific focus on populations the pandemic disproportionately affects. As part of a comprehensive, mixed-methods strategic evaluation plan, our team developed the QEP. We employed qualitative methods to understand RADx-UP academic and community partners’ experiences implementing community-engaged research strategies, and to understand …