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Conditional Deletion Of Cd25 In The Corneal Epithelium Reveals Sex Differences In Barrier Disruption, Anmar Abu-Romman, Kaitlin K Scholand, Sonali Pal-Ghosh, Zhiyuan Yu, Yashaswini Kelagere, Ghasem Yazdanpanah, Winston W-Y Kao, Vivien J Coulson-Thomas, Mary Ann Stepp, Cintia S De Paiva Oct 2023

Conditional Deletion Of Cd25 In The Corneal Epithelium Reveals Sex Differences In Barrier Disruption, Anmar Abu-Romman, Kaitlin K Scholand, Sonali Pal-Ghosh, Zhiyuan Yu, Yashaswini Kelagere, Ghasem Yazdanpanah, Winston W-Y Kao, Vivien J Coulson-Thomas, Mary Ann Stepp, Cintia S De Paiva

Faculty, Staff and Students Publications

PURPOSE: IL-2 promotes activation, clonal expansion, and deletion of T cells. IL-2 signals through its heterotrimeric receptor (IL-2R) consisting of the CD25, CD122 and CD132 chains. CD25 knockout (KO) mice develop Sjögren Syndrome-like disease. This study investigates whether corneal CD25/IL-2 signaling is critical for ocular health.

METHODS: Eyes from C57BL/6 mice were collected and prepared for immunostaining or in-situ hybridization. Bulk RNA sequencing was performed on the corneal epithelium from wild-type and CD25KO mice. We generated a conditional corneal-specific deletion of CD25 in the corneal epithelium (CD25

RESULTS: In C57BL/6 mice, CD25 mRNA was expressed in ocular tissues. Protein expression …


Tnf Is A Critical Cytokine In Age-Related Dry Eye Disease, Yashaswini Kelagere, Kaitlin K Scholand, Erica N Dejong, Andrea I Boyd, Zhiyuan Yu, Roger A Astley, Michelle C Callegan, Dawn Me Bowdish, Helen P Makarenkova, Cintia S De Paiva Oct 2023

Tnf Is A Critical Cytokine In Age-Related Dry Eye Disease, Yashaswini Kelagere, Kaitlin K Scholand, Erica N Dejong, Andrea I Boyd, Zhiyuan Yu, Roger A Astley, Michelle C Callegan, Dawn Me Bowdish, Helen P Makarenkova, Cintia S De Paiva

Faculty, Staff and Students Publications

Aging is a complex biological process that is characterized by low-grade inflammation, called inflammaging. Aging affects multiple organs including eye and lacrimal gland. Tumor necrosis factor (TNF) is a pleiotropic cytokine that participates in inflammation, activation of proteases such as cathepsin S, and formation of ectopic lymphoid organs. Using genetic and pharmacological approaches, we investigated the role of TNF in age-related dry eye disease, emphasizing the ocular surface and lacrimal gland inflammation. Our results show the increased protein and mRNA levels of TNF in aged lacrimal glands, accompanied by increased TNF, IL1β, IL-18, CCL5, CXCL1, IL-2, IL-2 receptor alpha (CD25), …


A Novel Prediction Model Of The Risk Of Pancreatic Cancer Among Diabetes Patients Using Multiple Clinical Data And Machine Learning, Shih-Min Chen, Phan Thanh Phuc, Phung-Anh Nguyen, Whitney Burton, Shwu-Jiuan Lin, Weei-Chin Lin, Christine Y Lu, Min-Huei Hsu, Chi-Tsun Cheng, Jason C Hsu Oct 2023

A Novel Prediction Model Of The Risk Of Pancreatic Cancer Among Diabetes Patients Using Multiple Clinical Data And Machine Learning, Shih-Min Chen, Phan Thanh Phuc, Phung-Anh Nguyen, Whitney Burton, Shwu-Jiuan Lin, Weei-Chin Lin, Christine Y Lu, Min-Huei Hsu, Chi-Tsun Cheng, Jason C Hsu

Faculty, Staff and Students Publications

INTRODUCTION: Pancreatic cancer is associated with poor prognosis. Considering the increased global incidence of diabetes cases and that individuals with diabetes are considered a high-risk subpopulation for pancreatic cancer, it is critical to detect the risk of pancreatic cancer within populations of person living = with diabetes. This study aimed to develop a novel prediction model for pancreatic cancer risk among patients with diabetes, using = a real-world database containing clinical features and employing numerous artificial intelligent approach algorithms.

METHODS: This retrospective observational study analyzed data on patients with Type 2 diabetes from a multisite Taiwanese EMR database between 2009 …


Germline Pathogenic Smarca4 Variants In Neuroblastoma, Leora Witkowski, Kim E Nichols, Marjolijn Jongmans, Nienke Van Engelen, Ronald R De Krijger, Jennifer Herrera-Mullar, Lieve Tytgat, Armita Bahrami, Helen Mar Fan, Aimee L Davidson, Thomas Robertson, Michael Anderson, Martin Hasselblatt, Sharon E Plon, William D Foulkes Oct 2023

Germline Pathogenic Smarca4 Variants In Neuroblastoma, Leora Witkowski, Kim E Nichols, Marjolijn Jongmans, Nienke Van Engelen, Ronald R De Krijger, Jennifer Herrera-Mullar, Lieve Tytgat, Armita Bahrami, Helen Mar Fan, Aimee L Davidson, Thomas Robertson, Michael Anderson, Martin Hasselblatt, Sharon E Plon, William D Foulkes

Faculty, Staff and Students Publications

Heterozygous germline pathogenic variants (GPVs) in SMARCA4, the gene encoding the ATP-dependent chromatin remodeling protein SMARCA4 (previously known as BRG1), predispose to several rare tumour types, including small cell carcinoma of the ovary, hypercalcemic type, atypical teratoid and malignant rhabdoid tumor, and uterine sarcoma. The increase in germline testing of SMARCA4 in recent years has revealed putative GPVs affecting SMARCA4 in patients with other cancer types. Here we describe 11 patients with neuroblastoma, including four previously unreported cases, all of whom were found to harbour heterozygous germline variants in SMARCA4. Median age at diagnosis was 5 years (range 2 …


Views Of Adolescents And Young Adults With Cancer And Their Oncologists Toward Patients' Participation In Genomic Research, Amanda M Gutierrez, Jill O Robinson, Robin Raesz-Martinez, Isabel Canfield, Mary A Majumder, Sarah Scollon, Lauren R Desrosiers, Rebecca L Hsu, Wendy Allen-Rhoades, D Williams Parsons, Sharon E Plon, Amy L Mcguire, Janet Malek Oct 2023

Views Of Adolescents And Young Adults With Cancer And Their Oncologists Toward Patients' Participation In Genomic Research, Amanda M Gutierrez, Jill O Robinson, Robin Raesz-Martinez, Isabel Canfield, Mary A Majumder, Sarah Scollon, Lauren R Desrosiers, Rebecca L Hsu, Wendy Allen-Rhoades, D Williams Parsons, Sharon E Plon, Amy L Mcguire, Janet Malek

Faculty, Staff and Students Publications

Purpose:

With increased use of genomic testing in cancer research and clinical care, it is important to understand the perspectives and decision-making preferences of adolescents and young adults (AYAs) with cancer and their treating oncologists.

Methods:

We conducted an interview substudy of the BASIC3 Study, which enrolled newly diagnosed cancer patients <18 years of age with assent. Of 32 young adults (YAs) with cancer who reached the age of majority (AOM; 18 years) while on study, 12 were successfully approached and all consented to study continuation at AOM. Of those, seven completed an interview. Patients' oncologists, who enrolled and participated in return of clinical genomic results, were also interviewed (n = 12). Interviews were transcribed, deidentified, and analyzed using thematic analysis.

Results:

YAs cited the possibility of helping others and advancing science as major reasons for their assent to initial study enrollment and their willingness to consent at AOM. YAs thought obtaining informed consent from research participants for …


Pediatric Status Epilepticus Management By Emergency Medical Services (The Pserg Cohort), Marta Amengual-Gual, Iván Sánchez Fernández, Alejandra Vasquez, Nicholas S Abend, Anne Anderson, Ravindra Arya, Cristina Barcia Aguilar, J Nicholas Brenton, Jessica L Carpenter, Kevin E Chapman, Justice Clark, Raquel Farias-Moeller, William D Gaillard, Tracy A Glauser, Joshua L Goldstein, Howard P Goodkin, Yi-Chen Lai, Mohamad A Mikati, Lindsey A Morgan, Edward J Novotny, Adam P Ostendorf, Eric T Payne, Katrina Peariso, Juan Piantino, Latania Reece, James J Riviello, Kumar Sannagowdara, Theodore Sheehan, Robert C Tasker, Dmitry Tchapyjnikov, Alexis A Topjian, Mark S Wainwright, Angus Wilfong, Korwyn Williams, Tobias Loddenkemper Oct 2023

Pediatric Status Epilepticus Management By Emergency Medical Services (The Pserg Cohort), Marta Amengual-Gual, Iván Sánchez Fernández, Alejandra Vasquez, Nicholas S Abend, Anne Anderson, Ravindra Arya, Cristina Barcia Aguilar, J Nicholas Brenton, Jessica L Carpenter, Kevin E Chapman, Justice Clark, Raquel Farias-Moeller, William D Gaillard, Tracy A Glauser, Joshua L Goldstein, Howard P Goodkin, Yi-Chen Lai, Mohamad A Mikati, Lindsey A Morgan, Edward J Novotny, Adam P Ostendorf, Eric T Payne, Katrina Peariso, Juan Piantino, Latania Reece, James J Riviello, Kumar Sannagowdara, Theodore Sheehan, Robert C Tasker, Dmitry Tchapyjnikov, Alexis A Topjian, Mark S Wainwright, Angus Wilfong, Korwyn Williams, Tobias Loddenkemper

Faculty, Staff and Students Publications

Purpose: Delayed treatment in status epilepticus (SE) is independently associated with increased treatment resistance, morbidity, and mortality. We describe the prehospital management pathway and Emergency Medical Services (EMS) timeliness in children who developed refractory convulsive status epilepticus (RCSE).

Methods: Retrospective multicenter study in the United States using prospectively collected observational data from June 2011 to March 2020. We selected pediatric patients (one month-21 years) with RCSE initiated outside the hospital and transported to the hospital by EMS.

Results: We included 91 patients with a median (percentile25-percentile75) age of 3.0 (1.5-7.3) years. The median time from seizure onset to hospital arrival …


Heart Failure Epidemiology And Outcomes Statistics: A Report Of The Heart Failure Society Of America, Biykem Bozkurt, Tariq Ahmad, Kevin M Alexander, William L Baker, Kelly Bosak, Khadijah Breathett, Gregg C Fonarow, Paul Heidenreich, Jennifer E Ho, Eileen Hsich, Nasrien E Ibrahim, Lenette M Jones, Sadiya S Khan, Prateeti Khazanie, Todd Koelling, Harlan M Krumholz, Kiran K Khush, Christopher Lee, Alanna A Morris, Robert L Page, Ambarish Pandey, Mariann R Piano, Josef Stehlik, Lynne Warner Stevenson, John R Teerlink, Muthiah Vaduganathan, Boback Ziaeian, Writing Committee Members Oct 2023

Heart Failure Epidemiology And Outcomes Statistics: A Report Of The Heart Failure Society Of America, Biykem Bozkurt, Tariq Ahmad, Kevin M Alexander, William L Baker, Kelly Bosak, Khadijah Breathett, Gregg C Fonarow, Paul Heidenreich, Jennifer E Ho, Eileen Hsich, Nasrien E Ibrahim, Lenette M Jones, Sadiya S Khan, Prateeti Khazanie, Todd Koelling, Harlan M Krumholz, Kiran K Khush, Christopher Lee, Alanna A Morris, Robert L Page, Ambarish Pandey, Mariann R Piano, Josef Stehlik, Lynne Warner Stevenson, John R Teerlink, Muthiah Vaduganathan, Boback Ziaeian, Writing Committee Members

Faculty, Staff and Students Publications

No abstract provided.


Texas Developmental Center For Aids Research Cfar Diversity, Equity, And Inclusion Pathway Initiative Program, Fred A Pereira, Alana D Newell, Andrew P Rice Oct 2023

Texas Developmental Center For Aids Research Cfar Diversity, Equity, And Inclusion Pathway Initiative Program, Fred A Pereira, Alana D Newell, Andrew P Rice

Faculty, Staff and Students Publications

BACKGROUND: The Texas Developmental Center for AIDS Research (D-CFAR) diversity program, termed the CFAR Diversity, Equity, and Inclusion Pathway Initiative (CDEIPI), was created in 2021 to engage high school students and graduate students from Underrepresented Minorities/Black, Indigenous, and People of Color populations.

SETTING: The Texas D-CFAR CDEIPI has partnered with 2 Texas high schools with predominantly economically disadvantaged and minority student populations-Michael E. DeBakey High School for Health Professions in Houston, TX, and the South Texas Independent School District Medical Professions High School in Olmito, TX in the Rio Grande Valley.

METHODS: A total of 370 high school student learners …


Disentangling Sex Differences In Ptsd Risk Factors: A Systematic Overview And Multiple Mediation Analysis The The Aurora Study, Stephanie Haering, Antonia V. Seligowski, Sarah Linnstaedt, Vasiliki Michopoulos, Stacey L. House, Francesca Beaudoin, Xinming An, Thomas C. Neylan, Gari Clifford, Robert A. Swor Oct 2023

Disentangling Sex Differences In Ptsd Risk Factors: A Systematic Overview And Multiple Mediation Analysis The The Aurora Study, Stephanie Haering, Antonia V. Seligowski, Sarah Linnstaedt, Vasiliki Michopoulos, Stacey L. House, Francesca Beaudoin, Xinming An, Thomas C. Neylan, Gari Clifford, Robert A. Swor

Articles

No abstract provided.


Menstruation And Adolescent Girls' Daily Lives In Rural Upper Egypt, Salma Abou Hussein, Nahla G. Abdel-Tawab Oct 2023

Menstruation And Adolescent Girls' Daily Lives In Rural Upper Egypt, Salma Abou Hussein, Nahla G. Abdel-Tawab

Adolescents and Young People

The Population Council conducted a qualitative study to understand the menstruation-related attitudes, practices, and perceptions that shape adolescent girls’ daily routines in rural upper Egypt communities, specifically Assiut and Sohag. The study relied on in-depth interviews with unmarried adolescent girls aged 13–16; focus group discussions with girls aged 13–16, mothers, fathers, and male siblings of adolescent girls; and key informant interviews with schoolteachers, doctors/nurses, pharmacists, and community leaders. “Period poverty” (lack of access to, or inability to afford period supplies) can be detected among adolescent girls in rural Assiut and Sohag. Lack of information and emotional and practical support before …


The Graphical User Interface For Bounded Addition Fuzzy Splicing, Mathuri Selvarajoo, Mohd Pawiro Santono, Fong Wan Heng, Nor Haniza Sarmin Oct 2023

The Graphical User Interface For Bounded Addition Fuzzy Splicing, Mathuri Selvarajoo, Mohd Pawiro Santono, Fong Wan Heng, Nor Haniza Sarmin

Malaysian Journal of Computing (MJoC)

A splicing system is one of the early theoretical proposals of the DNA-based computation device. The splicing operation starts when two DNA molecules are cut at specific subsequences with the presence of restriction enzymes: the first part is then connected to the second part of the other molecule, or vice versa, to produce splicing languages. Fuzzy with bounded-addition operation has been introduced as a restriction in splicing systems to increase the generative power of the languages generated. In this research, a graphical user interface is developed to generate all the splicing languages generated by bounded-addition fuzzy splicing systems and their …


N7-Methylguanosine Methylation Of Trnas Regulates Survival To Stress In Cancer, Raquel García-Vílchez, Ana M Añazco-Guenkova, Judith López, Sabine Dietmann, Mercedes Tomé, Sonia Jimeno, Mikel Azkargorta, Félix Elortza, Laura Bárcena, Monika Gonzalez-Lopez, Ana M Aransay, Manuel A Sánchez-Martín, Pablo Huertas, Raúl V Durán, Sandra Blanco Oct 2023

N7-Methylguanosine Methylation Of Trnas Regulates Survival To Stress In Cancer, Raquel García-Vílchez, Ana M Añazco-Guenkova, Judith López, Sabine Dietmann, Mercedes Tomé, Sonia Jimeno, Mikel Azkargorta, Félix Elortza, Laura Bárcena, Monika Gonzalez-Lopez, Ana M Aransay, Manuel A Sánchez-Martín, Pablo Huertas, Raúl V Durán, Sandra Blanco

2020-Current year OA Pubs

Tumour progression and therapy tolerance are highly regulated and complex processes largely dependent on the plasticity of cancer cells and their capacity to respond to stress. The higher plasticity of cancer cells highlights the need for identifying targetable molecular pathways that challenge cancer cell survival. Here, we show that N


The Effects Of Landscape And Yard Features On Mammal Diversity In Residential Yards Within Northwest Arkansas, Usa, Emily P. Johansson, Brett A. Degregorio Oct 2023

The Effects Of Landscape And Yard Features On Mammal Diversity In Residential Yards Within Northwest Arkansas, Usa, Emily P. Johansson, Brett A. Degregorio

Biological Sciences Faculty Publications and Presentations

The human footprint is rapidly expanding, and wildlife habitat is continuously being converted to human residential properties. Surviving wildlife that reside in developing areas are displaced to nearby undeveloped areas. However, some animals can co-exist with humans and acquire the necessary resources (food, water, shelter) within the human environment. This ability to coexist may be particularly true when development is low intensity, as in residential suburban yards. Yards are individually managed “greenspaces” that can provide a range of food (e.g., bird feeders, compost, gardens), water (bird baths and garden ponds), and shelter (e.g., brush-piles, outbuildings) resources and are surrounded by …


The Himalayan Uplift And Evolution Of Aquatic Biodiversity Across Asia: Snowtrout (Cyprininae: Schizothorax) As A Test Case, Binod Regmi, Marlis R. Douglas, Karma Wangchuk, Zachery D. Zbinden, David R. Edds, Singye Tshering, Michael E. Douglas Oct 2023

The Himalayan Uplift And Evolution Of Aquatic Biodiversity Across Asia: Snowtrout (Cyprininae: Schizothorax) As A Test Case, Binod Regmi, Marlis R. Douglas, Karma Wangchuk, Zachery D. Zbinden, David R. Edds, Singye Tshering, Michael E. Douglas

Biological Sciences Faculty Publications and Presentations

Global biodiversity hotspots are often remote, tectonically active areas undergoing climatic fluctuations, such as the Himalaya Mountains and neighboring Qinghai-Tibetan Plateau (QTP). They provide biogeographic templates upon which endemic biodiversity can be mapped to infer diversification scenarios. Yet, this process can be somewhat opaque for the Himalaya, given substantial data gaps separating eastern and western regions. To help clarify, we evaluated phylogeographic and phylogenetic hypotheses for a widespread fish (Snowtrout: Cyprininae; Schizothorax) by sequencing 1,140 base pair of mtDNA cytochrome-b (cytb) from Central Himalaya samples (Nepal: N = 53; Bhutan: N = 19), augmented with 68 GenBank …


Predicting Stringent Quantiferon-Tb Gold Plus Conversions In Contacts Of Tuberculosis Patients, Sheng-Wei Pan, Donald G. Catanzaro, Marva Seifert, Rehan Syed, Naomi Hillery, Mei-Lin Ho, Valeriu Crudu, Elena Tudor, Nelly Ciobanu, Alexandru Codreanu, Antonino Catanzaro, Timonthy C. Rodwell Oct 2023

Predicting Stringent Quantiferon-Tb Gold Plus Conversions In Contacts Of Tuberculosis Patients, Sheng-Wei Pan, Donald G. Catanzaro, Marva Seifert, Rehan Syed, Naomi Hillery, Mei-Lin Ho, Valeriu Crudu, Elena Tudor, Nelly Ciobanu, Alexandru Codreanu, Antonino Catanzaro, Timonthy C. Rodwell

Biological Sciences Faculty Publications and Presentations

Objectives

To assess associations between disease severity in index TB patients and QuantiFERON-TB Gold Plus (QFT-Plus) results in contacts, and predictors for QFT-Plus conversion in contacts over 6–12 months.

Methods

TB patients (n = 295) and the contacts (n = 1051) were enrolled during 2018–2021 with QFT-Plus performed at baseline and months 6 and 12. A strong CD8 response was defined as TB2 interferon gamma (IFN-γ) response minus TB1 >0.6 IU/ml and stringent conversion as change from QFT-plus negative to high-positive QFT-Plus (TB1 or TB2 IFN-γ responses >0.7 IU/ml).

Results

Contacts with index TB patients with sputum smear >1+ was …


Genetic Architecture Of Soybean Tolerance To Off-Target Dicamba, Caio Canella Vieira, Jing Zhou, Diego Jarquin, Jiangfeng Zhou, Brian Diers, Dean E. Riechers, Henry T. Nguyen, Grover Shannon Oct 2023

Genetic Architecture Of Soybean Tolerance To Off-Target Dicamba, Caio Canella Vieira, Jing Zhou, Diego Jarquin, Jiangfeng Zhou, Brian Diers, Dean E. Riechers, Henry T. Nguyen, Grover Shannon

Crop, Soil and Environmental Sciences Faculty Publications and Presentations

The adoption of dicamba-tolerant (DT) soybean in the United States resulted in extensive off-target dicamba damage to non-DT vegetation across soybean-producing states. Although soybeans are highly sensitive to dicamba, the intensity of observed symptoms and yield losses are affected by the genetic background of genotypes. Thus, the objective of this study was to detect novel marker-trait associations and expand on previously identified genomic regions related to soybean response to off-target dicamba. A total of 551 non-DT advanced breeding lines derived from 232 unique bi-parental populations were phenotyped for off-target dicamba across nine environments for three years. Breeding lines were genotyped …


The Vcam1-Apoe Pathway Directs Microglial Chemotaxis And Alleviates Alzheimer's Disease Pathology, Shun-Fat Lau, Wei Wu, Hiu Yi Wong, Li Ouyang, Yi Qiao, Jiahui Xu, Jessica Hiu-Yan Lau, Carlton Wong, Yuanbing Jiang, David M Holtzman, Amy K Y Fu, Nancy Y Ip Oct 2023

The Vcam1-Apoe Pathway Directs Microglial Chemotaxis And Alleviates Alzheimer's Disease Pathology, Shun-Fat Lau, Wei Wu, Hiu Yi Wong, Li Ouyang, Yi Qiao, Jiahui Xu, Jessica Hiu-Yan Lau, Carlton Wong, Yuanbing Jiang, David M Holtzman, Amy K Y Fu, Nancy Y Ip

2020-Current year OA Pubs

In Alzheimer's disease (AD), sensome receptor dysfunction impairs microglial danger-associated molecular pattern (DAMP) clearance and exacerbates disease pathology. Although extrinsic signals, including interleukin-33 (IL-33), can restore microglial DAMP clearance, it remains largely unclear how the sensome receptor is regulated and interacts with DAMP during phagocytic clearance. Here, we show that IL-33 induces VCAM1 in microglia, which promotes microglial chemotaxis toward amyloid-beta (Aβ) plaque-associated ApoE, and leads to Aβ clearance. We show that IL-33 stimulates a chemotactic state in microglia, characterized by Aβ-directed migration. Functional screening identified that VCAM1 directs microglial Aβ chemotaxis by sensing Aβ plaque-associated ApoE. Moreover, we found …


Dmrt1 Regulates Human Germline Commitment, Naoko Irie, Sun-Min Lee, Valentina Lorenzi, Haiqi Xu, Jinfeng Chen, Masato Inoue, Toshihiro Kobayashi, Carmen Sancho-Serra, Elena Drousioti, Sabine Dietmann, Roser Vento-Tormo, Chun-Xiao Song, M Azim Surani Oct 2023

Dmrt1 Regulates Human Germline Commitment, Naoko Irie, Sun-Min Lee, Valentina Lorenzi, Haiqi Xu, Jinfeng Chen, Masato Inoue, Toshihiro Kobayashi, Carmen Sancho-Serra, Elena Drousioti, Sabine Dietmann, Roser Vento-Tormo, Chun-Xiao Song, M Azim Surani

2020-Current year OA Pubs

Germline commitment following primordial germ cell (PGC) specification during early human development establishes an epigenetic programme and competence for gametogenesis. Here we follow the progression of nascent PGC-like cells derived from human embryonic stem cells in vitro. We show that switching from BMP signalling for PGC specification to Activin A and retinoic acid resulted in DMRT1 and CDH5 expression, the indicators of migratory PGCs in vivo. Moreover, the induction of DMRT1 and SOX17 in PGC-like cells promoted epigenetic resetting with striking global enrichment of 5-hydroxymethylcytosine and locus-specific loss of 5-methylcytosine at DMRT1 binding sites and the expression of DAZL representing …


Clinical Classification Of Variants In The Valosin-Containing Protein Gene Associated With Multisystem Proteinopathy, Marianela Schiava, Jil Daw, Conrad Chris Weihl, Et Al. Oct 2023

Clinical Classification Of Variants In The Valosin-Containing Protein Gene Associated With Multisystem Proteinopathy, Marianela Schiava, Jil Daw, Conrad Chris Weihl, Et Al.

2020-Current year OA Pubs

BACKGROUND AND OBJECTIVES: Pathogenic variants in the valosin-containing protein (

METHODS: A 6-item clinical score was developed to evaluate the phenotypic level of evidence to support the pathogenicity of the novel variants. Each item is allocated a value, a score ranging from 0.5 to 5.5 points. A receiver-operating characteristic curve was used to identify a cutoff value of 3 to consider a variant as high likelihood disease associated. The scoring system results were confronted with results of in vitro ATPase activity assays and with in silico analysis.

RESULTS: All variants were missense, except for one small deletion-insertion, 18 led to …


Identifying Contributors To Disparities In Patient Access Of Online Medical Records: Examining The Role Of Clinician Encouragement, Bryan A Sisk, Sunny Lin, Joyce Joy E Balls-Berry, Argentina E Servin, Jennifer W Mack Oct 2023

Identifying Contributors To Disparities In Patient Access Of Online Medical Records: Examining The Role Of Clinician Encouragement, Bryan A Sisk, Sunny Lin, Joyce Joy E Balls-Berry, Argentina E Servin, Jennifer W Mack

2020-Current year OA Pubs

OBJECTIVE: The aim of this study was to understand the influence of clinician encouragement and sociodemographic factors on whether patients access online electronic medical records (EMR).

MATERIALS AND METHODS: We analyzed 3279 responses from the Health Information National Trends Survey 5 cycle 4 survey, a cross-sectional, nationally representative survey administered by the National Cancer Institute. Frequencies and weighted proportions were calculated to compare clinical encouragement and access to their online EMR. Using multivariate logistic regression, we identified factors associated with online EMR use and clinician encouragement.

RESULTS: In 2020, an estimated 42% of US adults accessed their online EMR and …


Polygenic Risk Score Predicts Risk Of Primary Sclerosing Cholangitis In Inflammatory Bowel Disease, Ming-Hsi Wang, Jessica J Friton, Laura E Raffals, Jonathan A Leighton, Shabana F Pasha, Michael F Picco, Kelly Monroe, Billy D Nix, Rodney D Newberry, William A Faubion Oct 2023

Polygenic Risk Score Predicts Risk Of Primary Sclerosing Cholangitis In Inflammatory Bowel Disease, Ming-Hsi Wang, Jessica J Friton, Laura E Raffals, Jonathan A Leighton, Shabana F Pasha, Michael F Picco, Kelly Monroe, Billy D Nix, Rodney D Newberry, William A Faubion

2020-Current year OA Pubs

BACKGROUND: Forty distinct primary sclerosing cholangitis (PSC) genomic loci have been identified through multiancestry meta-analyses. The polygenic risk score (PRS) could serve as a promising tool to discover unique disease behaviour, like PSC, underlying inflammatory bowel disease (IBD).

AIM: To test whether PRS indicates PSC risk in patients with IBD.

MATERIALS AND METHODS: Mayo Clinic and Washington University at St Louis IBD cohorts were used to test our hypothesis. PRS was modelled through the published PSC loci and weighted with their corresponding effect size. Logistic regression was applied to predict the PSC risk.

RESULTS: In total, 63 (5.6%) among 1130 …


First-In-Human Phase I/Ib Study Of Niz985, A Recombinant Heterodimer Of Il-15 And Il-15rα, As A Single Agent And In Combination With Spartalizumab In Patients With Advanced And Metastatic Solid Tumors, Rom Leidner, Kevin Conlon, Douglas G Mcneel, Andrea Wang-Gillam, Sumati Gupta, Robert Wesolowski, Monica Chaudhari, Nadia Hassounah, Jong Bong Lee, Lang Ho Lee, Jessica A O'Keeffe, Nancy Lewis, George N Pavlakis, John A Thompson Oct 2023

First-In-Human Phase I/Ib Study Of Niz985, A Recombinant Heterodimer Of Il-15 And Il-15rα, As A Single Agent And In Combination With Spartalizumab In Patients With Advanced And Metastatic Solid Tumors, Rom Leidner, Kevin Conlon, Douglas G Mcneel, Andrea Wang-Gillam, Sumati Gupta, Robert Wesolowski, Monica Chaudhari, Nadia Hassounah, Jong Bong Lee, Lang Ho Lee, Jessica A O'Keeffe, Nancy Lewis, George N Pavlakis, John A Thompson

2020-Current year OA Pubs

BACKGROUND: Preclinically, interleukin-15 (IL-15) monotherapy promotes antitumor immune responses, which are enhanced when IL-15 is used in combination with immune checkpoint inhibitors (ICIs). This first-in-human study investigated NIZ985, a recombinant heterodimer comprising physiologically active IL-15 and IL-15 receptor α, as monotherapy and in combination with spartalizumab, an anti-programmed cell death protein-1 (anti-PD-1) monoclonal antibody, in patients with advanced solid tumors.

METHODS: This phase I/Ib study had two dose-escalation arms: single-agent NIZ985 administered subcutaneously thrice weekly (TIW, 2 weeks on/2 weeks off) or once weekly (QW, 3 weeks on/1 week off), and NIZ985 TIW or QW administered subcutaneously plus spartalizumab (400 …


A Drosophila Glial Cell Atlas Reveals A Mismatch Between Transcriptional And Morphological Diversity, Inês Lago-Baldaia, Maia Cooper, Austin Seroka, Chintan Trivedi, Gareth T. Powell, Stephen W. Wilson, Sarah D. Ackerman, Vilaiwan M. Fernandes Oct 2023

A Drosophila Glial Cell Atlas Reveals A Mismatch Between Transcriptional And Morphological Diversity, Inês Lago-Baldaia, Maia Cooper, Austin Seroka, Chintan Trivedi, Gareth T. Powell, Stephen W. Wilson, Sarah D. Ackerman, Vilaiwan M. Fernandes

2020-Current year OA Pubs

Morphology is a defining feature of neuronal identity. Like neurons, glia display diverse morphologies, both across and within glial classes, but are also known to be morphologically plastic. Here, we explored the relationship between glial morphology and transcriptional signature using the Drosophila central nervous system (CNS), where glia are categorised into 5 main classes (outer and inner surface glia, cortex glia, ensheathing glia, and astrocytes), which show within-class morphological diversity. We analysed and validated single-cell RNA sequencing data of Drosophila glia in 2 well-characterised tissues from distinct developmental stages, containing distinct circuit types: the embryonic ventral nerve cord (VNC) (motor) …


Short Tandem Repeat Profiling Via Next-Generation Sequencing For Cell Line Authentication, Yi-Hsien Chen, Jon P Connelly, Colin Florian, Xiaoxia Cui, Shondra M Pruett-Miller Oct 2023

Short Tandem Repeat Profiling Via Next-Generation Sequencing For Cell Line Authentication, Yi-Hsien Chen, Jon P Connelly, Colin Florian, Xiaoxia Cui, Shondra M Pruett-Miller

2020-Current year OA Pubs

Cell lines are indispensable models for modern biomedical research. A large part of their usefulness derives from the ability of a cell line to proliferate over multiple passages (often indefinitely), allowing multiple experiments to be performed. However, over time, cell line identity and purity can be compromised by human errors. Cross-contamination from other cell lines and complete misidentification are both possible. Routine cell line authentication is a necessary preventive measure and has become a requirement for many funding applications and publications. Short tandem repeat (STR) profiling is the most common method for cell line authentication and is usually carried out …


Derivation, Validation, And Clinical Relevance Of A Pediatric Sepsis Phenotype With Persistent Hypoxemia, Encephalopathy, And Shock, L. Nelson Sanchez-Pinto, Tellen D. Bennett, Emily K. Stroup, Yuan Luo, Mihir Atreya, Juliane Bubeck-Wardenburg, Grace Chong, Alon Geva, E. Vincent S. Faustino, Reid W. Farris, Mark W. Hall, Colin Rogerson, Sareen S. Shah, Scott L. Weiss, Robinder G. Khemani Oct 2023

Derivation, Validation, And Clinical Relevance Of A Pediatric Sepsis Phenotype With Persistent Hypoxemia, Encephalopathy, And Shock, L. Nelson Sanchez-Pinto, Tellen D. Bennett, Emily K. Stroup, Yuan Luo, Mihir Atreya, Juliane Bubeck-Wardenburg, Grace Chong, Alon Geva, E. Vincent S. Faustino, Reid W. Farris, Mark W. Hall, Colin Rogerson, Sareen S. Shah, Scott L. Weiss, Robinder G. Khemani

2020-Current year OA Pubs

OBJECTIVES: Untangling the heterogeneity of sepsis in children and identifying clinically relevant phenotypes could lead to the development of targeted therapies. Our aim was to analyze the organ dysfunction trajectories of children with sepsis-associated multiple organ dysfunction syndrome (MODS) to identify reproducible and clinically relevant sepsis phenotypes and determine if they are associated with heterogeneity of treatment effect (HTE) to common therapies.

DESIGN: Multicenter observational cohort study.

SETTING: Thirteen PICUs in the United States.

PATIENTS: Patients admitted with suspected infections to the PICU between 2012 and 2018.

INTERVENTIONS: None.

MEASUREMENTS AND MAIN RESULTS: We used subgraph-augmented nonnegative matrix factorization to …


Experiences Of The Supervisory Alliance And Self-Compassion In Counseling And Psychotherapy Students, Alexandre Brien, Patricia Dionne, Réginald Savard, Cynthia Bilodeau Sep 2023

Experiences Of The Supervisory Alliance And Self-Compassion In Counseling And Psychotherapy Students, Alexandre Brien, Patricia Dionne, Réginald Savard, Cynthia Bilodeau

Journal of Counselor Preparation and Supervision

This qualitative research examined the relationship between supervisory working alliance, self-compassion and reflexive self-awareness with students enrolled in a graduate-level counseling or counseling and psychotherapy program (n = 48). A thematic analysis using a Critical Incident Questionnaire was performed. The themes identified in this study indicate that both supervision alliance and self-compassion seemingly contribute positively to student supervisee learning experiences and to the development of their reflexive self-awareness. Moreover, the perceived learning achieved, and the development of reflexive self-awareness, reciprocally strengthened the supervisory alliance. Furthermore, the degree of supervisees’ self-compassion as well as their perceived supervisory alliances had an …


Counselors’ Stigma Toward Addictions: Increasing Awareness And Decreasing Stigma, Natalie M. Ricciutti Sep 2023

Counselors’ Stigma Toward Addictions: Increasing Awareness And Decreasing Stigma, Natalie M. Ricciutti

Journal of Counselor Preparation and Supervision

The purpose of this study was to explore licensed counselors’ level of stigma toward individuals with substance use disorders (SUDs) and process/behavioral addictions (PBAs) and note any differences. A total of 138 licensed mental health counselors from one Midwestern state completed the SRTSS and the BRTSS to determine levels of stigma toward SUDs and PBAs, respectively. Participant scores from the SRTSS and BRTSS were normally distributed, and 15% to 32% of participants’ scores were reflective of stigma toward individuals with either SUDs or PBAs. A significant difference was not found between participants’ stigma toward individuals with SUDs or PBAs. Hypotheses …


Noticing Instructional Challenges In Artifacts Of Teaching, Tara Barnhart, Elizabeth A. Van Es Sep 2023

Noticing Instructional Challenges In Artifacts Of Teaching, Tara Barnhart, Elizabeth A. Van Es

Education Faculty Articles and Research

This study investigates challenges of enactment teachers notice when analyzing artifacts of teaching in a professional development focused on supporting the enactment of NGSS-aligned modeling instruction. Five secondary science teachers participated in a semester-long video club. Transcripts of the segments of their meetings in which they analyzed artifacts of practice were coded to characterize what they noticed in videos and student work samples from their own and others’ classrooms of students engaging in sensemaking. Through an inductive and iterative approach, three main linguistic challenges were identified related to the teachers’ noticing of students’ disciplinary thinking: learning how to communicate with …


Vimentin Takes A Hike – Emerging Roles Of Extracellular Vimentin In Cancer And Wound Healing, Sepideh Parvanian, Leila S. Coelho-Rato, Alison E. Patteson, John E. Eriksson Sep 2023

Vimentin Takes A Hike – Emerging Roles Of Extracellular Vimentin In Cancer And Wound Healing, Sepideh Parvanian, Leila S. Coelho-Rato, Alison E. Patteson, John E. Eriksson

Physics - All Scholarship

Vimentin is a cytoskeletal protein important for many cellular processes, including proliferation, migration, invasion, stress resistance, signaling, and many more. The vimentin-deficient mouse has revealed many of these functions as it has numerous severe phenotypes, many of which are found only following a suitable challenge or stress. While these functions are usually related to vimentin as a major intracellular protein, vimentin is also emerging as an extracellular protein, exposed at the cell surface in an oligomeric form or secreted to the extracellular environment in soluble and vesicle-bound forms. Thus, this review explores the roles of the extracellular pool of vimentin …


South Coast Offshore Crustacean Resource Of Western Australia Harvest Strategy, Department Of Primary Industries And Regional Development, Western Australia Sep 2023

South Coast Offshore Crustacean Resource Of Western Australia Harvest Strategy, Department Of Primary Industries And Regional Development, Western Australia

Fisheries Management Papers

Harvest strategies for aquatic resources in Western Australia (WA) that are managed by the Department of Primary Industries and Regional Development (DPIRD, the Department) are formal documents that ensures decision-making processes are consistent with the principles of Ecologically Sustainable Development (ESD; Fletcher 2002) and Ecosystem Based Fisheries Management (EBFM; Fletcher et al. 2012). The objectives of ESD are reflected in the objects of the Fish Resources Management Act 1994 (FRMA) and the Aquatic Resources Management Act 2016 (ARMA), which is anticipated replace the FRMA once enacted. At this point, the Fish Resources Management Regulations 1995 (FRMR) is also anticipated to …