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2024

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Alpha Tracks Examination For Female Urine Samples Who Are Suffering From Urinary Tract Infections, Noor Adil Mohammed, Sarah M. Obaid, Shaimaa A. Abbas, Aeshah Ali Hussein Hussein Feb 2024

Alpha Tracks Examination For Female Urine Samples Who Are Suffering From Urinary Tract Infections, Noor Adil Mohammed, Sarah M. Obaid, Shaimaa A. Abbas, Aeshah Ali Hussein Hussein

Baghdad Science Journal

Urine samples had been gathered from females living in Baghdad city. The sample consisted of 30 females who suffered from U.T.I (Urinary tract infections) and 20 healthy females. The type of urine U.T.I was specified by the emergency lab in Al-Kindy hospital, and alpha tracks were determined by the nuclear track detector CR-39. The concentrations of alpha in 30 urine samples taken from females who had U.T.I ranged from 0.327ppm-1.583ppm, with an average of 0.94965 ppm. The maximum value 1.583 ppm is belonging to females with an aged 57 years old. The results of healthy female concentration ranged from 0.022 …


Synthesis, Characterisation And Biological Activity Of New Co, Ni, Zn And Cd Polymeric Complexes Derived From Dithiocarbamate Ligand, Riyadh M. Ahmed, Sarah S. Abdul Rahman, Dhefaf H. Badri, Khawla M. Sultan, Ismaeel Y. Majeed, Ghada M. Kamil Feb 2024

Synthesis, Characterisation And Biological Activity Of New Co, Ni, Zn And Cd Polymeric Complexes Derived From Dithiocarbamate Ligand, Riyadh M. Ahmed, Sarah S. Abdul Rahman, Dhefaf H. Badri, Khawla M. Sultan, Ismaeel Y. Majeed, Ghada M. Kamil

Baghdad Science Journal

Synthesis of a new class of Schiff-base ligand with a tetrazole moiety to form polymeric metal complexes with CoII, NiII, ZnII, and CdII ions has been demonstrated. The ligand was synthesised by a multi-steps by treating 5-amino-2-chlorobenzonitrile and cyclohexane -1,3-dione, the 5,5'-(((1E,3E)-cyclohexane-1,3-diylidene)bis(azanylylidene))bis(2-chlorobenzonitrile) was obtained. The precursor (M) was prepared from the reaction 5,5'-(((1E,3E)-cyclohexane-1,3-diylidene)bis(azanylylidene))bis(2-chlorobenzonitrile) with NaN3 to obtained (1E,3E)-N1,N3-bis(4-chloro-3-(1H-tetrazol-5-yl)phenyl)cyclohexane-1,3-diimine (N). By reacting the precursor (M) with CS2/KOH, the required ligand was synthesised. Co (II), Ni (II), Zn (II), Cd (II) ions produce polymeric metal complexes with the formula [M(L)]n when they react with the ligand (L). These complexes were synthesised using …


The Role Of Chlorella Vulgaris In Reducing Some Pharmaceutical Wastes Toxicity In Clam Pseudodontopsis Euphraticus, Zahraa H. Obaid, Nuha F. Kadhim, Jasim Mohammed Salman Feb 2024

The Role Of Chlorella Vulgaris In Reducing Some Pharmaceutical Wastes Toxicity In Clam Pseudodontopsis Euphraticus, Zahraa H. Obaid, Nuha F. Kadhim, Jasim Mohammed Salman

Baghdad Science Journal

Applications of microalgae in environmental studies have recently increased. Current uses of immobilized microalga Chlorella vulgaris include reducing pharmaceutical substances such as amoxicillin AMX and potassium dichromate K2Cr2O7 on freshwater clam Pseudodontopsis euphraticus as a biotic model. Recent research pointed out a change in biomarkers of oxidative stress in an evaluation of induced toxicity. Where clams were exposed to different concentrations100, 200, and 400 mg/L for 7 days and 20, 30, and 50 mg/L for 5 days of amoxicillin and potassium dichromate, respectively. The results showed that exposure to AMX and K2Cr2O7 led to a significant change in the activity …


Culturally Relevant Africultural Coping Moderates The Association Between Discrimination And Antiretroviral Adherence Among Sexual Minority Black Americans Living With Hiv., Glenn J. Wagner, Laura M. Bogart, David J. Klein, Sean J. Lawrence, Kathy Goggin, Mahlet Gizaw, Matt G. Mutchler Feb 2024

Culturally Relevant Africultural Coping Moderates The Association Between Discrimination And Antiretroviral Adherence Among Sexual Minority Black Americans Living With Hiv., Glenn J. Wagner, Laura M. Bogart, David J. Klein, Sean J. Lawrence, Kathy Goggin, Mahlet Gizaw, Matt G. Mutchler

Manuscripts, Articles, Book Chapters and Other Papers

Exposure to discrimination has been linked to lower HIV antiretroviral therapy (ART) adherence and poor HIV care outcomes among Black Americans. Coping has been shown to mitigate the harmful effects of discrimination on health behaviors, but the use of cultural relevant Africultural coping strategies is understudied as a moderator of the association between intersectional discrimination and ART adherence among Black Americans. We used adjusted logistic regression to test whether Africultural coping strategies (cognitive/emotional debriefing; collective; spiritual-centered; ritual-centered) moderated associations between multiple forms of discrimination (HIV, sexual orientation, race) and good ART adherence (minimum of 75% or 85% of prescribed doses …


Comparing Online Versus Laboratory Measures Of Speech Perception In Older Children And Adolescents, Tara Mcallister, Jonathan L. Preston, Laura Ochs, Jennifer Hill, Elaine R. Hitchcock Feb 2024

Comparing Online Versus Laboratory Measures Of Speech Perception In Older Children And Adolescents, Tara Mcallister, Jonathan L. Preston, Laura Ochs, Jennifer Hill, Elaine R. Hitchcock

Department of Communication Sciences and Disorders Faculty Scholarship and Creative Works

Given the increasing prevalence of online data collection, it is important to know how behavioral data obtained online compare to samples collected in the laboratory. This study compares online and in-person measurement of speech perception in older children and adolescents. Speech perception is important for assessment and treatment planning in speech-language pathology; we focus on the American English /r/ sound because of its frequency as a clinical target. Two speech perception tasks were adapted for web presentation using Gorilla: identification of items along a synthetic continuum from rake to wake, and category goodness judgment of English /r/ sounds in words …


Experimental Sars-Cov-2 Infection Of Elk And Mule Deer, Stephanie M. Porter, Airn E. Hartwig, Helle Bielefeldt-Ohmann, Jeffrey M. Marano, J. Jeffrey Root, Angela M. Bosco-Lauth Feb 2024

Experimental Sars-Cov-2 Infection Of Elk And Mule Deer, Stephanie M. Porter, Airn E. Hartwig, Helle Bielefeldt-Ohmann, Jeffrey M. Marano, J. Jeffrey Root, Angela M. Bosco-Lauth

United States Department of Agriculture Wildlife Services: Staff Publications

To assess the susceptibility of elk (Cervus canadensis) and mule deer (Odocoileus hemionus) to SARS-CoV-2, we performed experimental infections in both species. Elk did not shed infectious virus but mounted low-level serologic responses. Mule deer shed and transmitted virus and mounted pronounced serologic responses and thus could play a role in SARS-CoV-2 epidemiology.


Global Change Impacts On Indigenous Sustainability In Sakha Republic: A Synthesis Of Knowledge, Stanislav Saas Ksenofontov, Andrey N. Petrov Feb 2024

Global Change Impacts On Indigenous Sustainability In Sakha Republic: A Synthesis Of Knowledge, Stanislav Saas Ksenofontov, Andrey N. Petrov

Faculty Publications

Indigenous understanding of sustainability is embedded in close relations to land and environment, Indigenous Knowledge systems, Indigenous epistemologies and ontologies, and Indigenous languages. However, the sustainability of Indigenous peoples’ livelihoods is significantly affected by various global change drivers. In the Arctic, Indigenous peoples’ livelihoods are impacted by environmental, social, and cultural changes, including climate change, environmental pollution, economic processes, and resource extraction. This paper aims to review and synthesize recent academic and gray literature on the sustainability of Indigenous communities in Sakha Republic, Northeast Siberia, Russia in the face of global change with a particular focus on land- and water-based …


In This Issueoriginal Articlescase Report Feb 2024

In This Issueoriginal Articlescase Report

Saudi Medical Journal

No abstract provided.


Ras-Related Associated With Diabetes Genes For Biomarker-Based Therapeutics In Cancer: A Comparative Evolutionary Genomic Study, Mohammed A. Hakami Feb 2024

Ras-Related Associated With Diabetes Genes For Biomarker-Based Therapeutics In Cancer: A Comparative Evolutionary Genomic Study, Mohammed A. Hakami

Saudi Medical Journal

Objectives: To compare Ras-related associated with diabetes (RRAD) across different species and to identify specific biomarkers for cancer therapy. Methods: The study involves comparing the coding sequences, genes, messenger ribonucleic acid (RNA), non-coding RNA, open reading frame, short- and long-sequence repeats, and transcription factors of RRAD genes from 82 species. Various tools and software are employed for these comparisons, and evolutionary analysis was carried out to understand the gene’s evolutionary history. The data are classified based on forward and reverse sequences. Results: Our analysis indicates that ACTG1 may function as a downstream effector of RRAD, offering potential avenues for diabetes …


Cobalt-Chromium Toxicity Following Revision Of Total Hip Replacement, Ramy Samargandi, Louis-Romée Le Nail, Bandar Hetaimish, Maxime Saad Feb 2024

Cobalt-Chromium Toxicity Following Revision Of Total Hip Replacement, Ramy Samargandi, Louis-Romée Le Nail, Bandar Hetaimish, Maxime Saad

Saudi Medical Journal

Systemic cobalt-chromium (Co-Cr) toxicity following a total hip replacement is a rare complication that may sometimes lead to fatal consequences. We report a case of a 64-year-old woman, who presented with Co-Cr toxicity after revision of fractured ceramic components with metal-on-polyethylene. Systemic toxicity occurred a year after surgery and was expressed brutally with mostly central neurological symptoms. Revision surgery allowed rapid regression of all symptoms. Prosthetic revision with a metal bearing surface after a history of fracture of the ceramic bearing component should be avoided. Orthopedic surgeons and the different medical actors should be aware of this rare but serious …


Who Prequalifies A Second Malaria Vaccine, A Significant Milestone In Prevention Of The Disease Feb 2024

Who Prequalifies A Second Malaria Vaccine, A Significant Milestone In Prevention Of The Disease

Saudi Medical Journal

No abstract provided.


Investigation Of The Effect Of Belinostat On Mcf-7 Breast Cancer Stem Cells Via The Wnt, Notch, And Hedgehog Signaling Pathway, Zeliha Tuncer, Ercan Kurar, Tugçe Duran Feb 2024

Investigation Of The Effect Of Belinostat On Mcf-7 Breast Cancer Stem Cells Via The Wnt, Notch, And Hedgehog Signaling Pathway, Zeliha Tuncer, Ercan Kurar, Tugçe Duran

Saudi Medical Journal

Objectives: To evaluate belinostat’s (PXD101) activity on MCF-7 breast cancer stem cells (CSCs) via Wnt, Notch, and Hedgehog. Methods: This research study was carried out at the Department of Medical Biology, Necmettin Erbakan University, Konya, Turkey, from June 2017 to July 2019. The effect of PXD101 on MCF-7 cell viability was determined by cell proliferation kit (XTT). Following belinostat treatment, CD44+/CD24- MCF-7 CSCs were isolated by FACS. Ribonucleic acid isolation and copy-deoxyribonucleic acid synthesis were carried out using HEK-293 cells, MCF-7 cells, and MCF-7 CSCs. Expression changes of metastasis-related genes, Wnt, Hedgehog, Notch, and stem cell markers were analysed by …


Comparative Analysis Of A Secondary Metabolite Profile From Roots And Leaves Of Iostephane Heterophylla By Uplc-Ms And Gc-Ms, Diana V. Navarrete-Carriola, Alma D. Paz-González, Lenci K. Vázquez-Jiménez, Erick De Luna-Santillana, María A. Cruz-Hernández, Debasish Bandyopadhyay, Gildardo Rivera Feb 2024

Comparative Analysis Of A Secondary Metabolite Profile From Roots And Leaves Of Iostephane Heterophylla By Uplc-Ms And Gc-Ms, Diana V. Navarrete-Carriola, Alma D. Paz-González, Lenci K. Vázquez-Jiménez, Erick De Luna-Santillana, María A. Cruz-Hernández, Debasish Bandyopadhyay, Gildardo Rivera

School of Integrative Biological & Chemical Sciences Faculty Publications

Iostephane heterophylla is a traditional Mexican medicinal plant and is an important source of secondary metabolites with antimicrobial and cytotoxic activity. The aim of this work was to conduct a comparative analysis of secondary metabolites of different roots and leaf extracts of I. heterophylla from two zones in Mexico using ultraperformance liquid chromatography (UPLC) and gas chromatography (GC) coupled with mass spectrometry (MS). Twelve secondary metabolites from roots were identified in the leaves. Five new molecular weight secondary metabolites not previously reported were found. Six bioactive metabolites were quantified (quercetin ≤0.151 mg/mL in root and ≤0.041 mg/mL in leaf; hesperidin …


In Vitro Assessment Of Protamine Toxicity With Neural Cells, Its Therapeutic Potential To Counter Chondroitin Sulfate Mediated Neuron Inhibition, And Its Effects On Reactive Astrocytes, Derek W. Nelson, Jessica L. Funnell, Conrad H. Cheung, Geraldine B. Quinones, Christina S. Mendoza, Marvin Bentley, Ryan J. Gilbert Feb 2024

In Vitro Assessment Of Protamine Toxicity With Neural Cells, Its Therapeutic Potential To Counter Chondroitin Sulfate Mediated Neuron Inhibition, And Its Effects On Reactive Astrocytes, Derek W. Nelson, Jessica L. Funnell, Conrad H. Cheung, Geraldine B. Quinones, Christina S. Mendoza, Marvin Bentley, Ryan J. Gilbert

Chemical and Biochemical Engineering Faculty Research & Creative Works

Multiple therapies have been studied to ameliorate the neuroinhibitory cues present after traumatic injury to the central nervous system. Two previous in vitro studies have demonstrated the efficacy of the Food and Drug Administration-approved cardiovascular therapeutic, protamine (PRM), to overcome neuroinhibitory cues presented by chondroitin sulfates; however, the effect of a wide range of PRM concentrations on neuronal and glial cells has not been evaluated. In this study, we investigate the therapeutic efficacy of PRM with primary cortical neurons, hippocampal neurons, mixed glial cultures, and astrocytes. The threshold for PRM toxicity is shown to be at or above 10 µg …


Fisheries Research Report No. 339: Assessment Of The Status Of The South Coast Demersal Scalefish Resource, Jeffrey V. Norriss, Sybrand A. Hesp, David V. Fairclough, Rubie Evans-Powell, B. Hancock, Emily A. Fisher, Tim Leary, Nick Jarvis Feb 2024

Fisheries Research Report No. 339: Assessment Of The Status Of The South Coast Demersal Scalefish Resource, Jeffrey V. Norriss, Sybrand A. Hesp, David V. Fairclough, Rubie Evans-Powell, B. Hancock, Emily A. Fisher, Tim Leary, Nick Jarvis

Fisheries Research Reports

This document provides the 2023 risk-based weight of evidence stock assessments for snapper, Bight redfish, hapuku, blue morwong, and Western blue groper for 2023 in the South Coast Bioregion (SCB).


Fisheries Research Report No. 338: Assessment Of The Status Of The Pilbara Demersal Scalefish Resource, Corey Wakefield, Ainslie Denham, Fabian Trinnie, Sybrand A. Hesp, Rachel Marks, Dion Boddington, Stephen J. Newman Feb 2024

Fisheries Research Report No. 338: Assessment Of The Status Of The Pilbara Demersal Scalefish Resource, Corey Wakefield, Ainslie Denham, Fabian Trinnie, Sybrand A. Hesp, Rachel Marks, Dion Boddington, Stephen J. Newman

Fisheries Research Reports

Executive Summary

For this assessment of the Pilbara Demersal Scalefish Resource (PDSR) of Western Australia, red emperor and bluespotted emperor are the indicator species used to represent the status of the resource. In addition, goldband snapper, though not an indicator species, is relatively abundant in the annual catches, particularly in deeper waters (around 100 m) and in the western Pilbara region and its status has also been assessed.


Restorative Materials And Maintenance Protocols, Renata Budny, Khrystyna Vyprynyuk Feb 2024

Restorative Materials And Maintenance Protocols, Renata Budny, Khrystyna Vyprynyuk

Publications and Research

No abstract provided.


The New Undue Influence, David Horton, Reid K. Weisbord Feb 2024

The New Undue Influence, David Horton, Reid K. Weisbord

Utah Law Review

The doctrine of undue influence has long been the problem child of inheritance law. Undue influence, a hazy combination of fraud and duress, supposedly invalidates bequests that a beneficiary obtained by overriding the volition of a vulnerable testator or settlor. But because relationships are complex, concepts like free will are slippery, and challenges to do native transfers are litigated after the owner dies, courts struggle to apply the rule. Making matters worse, fact finders exploit the principle’s vagueness to protect a decedent’s family at the expense of non-traditional relationships. As a result, scholars have criticized undue influence fordecades, with some …


Exploring A Gene Panel For Parkinson’S Disease In An Egyptian Cohort, Asmaa Saeed Gabr Feb 2024

Exploring A Gene Panel For Parkinson’S Disease In An Egyptian Cohort, Asmaa Saeed Gabr

Theses and Dissertations

Parkinson’s disease is a highly heterogeneous disorder characterized by diverse neuropathological features, clinical presentations and progression patterns. In Egypt, Parkinson’s disease incidence rates lie outside the range reported elsewhere. The genetic background to the pathogenesis of Parkinson's disease has been postulated for a long time. However, Parkinson’s disease has never been systematically investigated in Egypt. This study aimed to explore genetic variants and interactions that are associated with the familial and sporadic forms of Parkinson's disease in an Egyptian cohort. This includes examining variants in PD-related genes, exploring the role of specific genes like MAPT and adjacent genomic regions, and …


Dean's Research Newsletter, February 2024, Neil W. Schluger Feb 2024

Dean's Research Newsletter, February 2024, Neil W. Schluger

SOM Dean's Research Newsletter

No abstract provided.


The Relationship Between Cognitive Impairment In Psychiatric Patients And Readmission Rate To An Inpatient Facility, Cherilyn Isis Schuff Feb 2024

The Relationship Between Cognitive Impairment In Psychiatric Patients And Readmission Rate To An Inpatient Facility, Cherilyn Isis Schuff

Theses and Dissertations

The primary intention of this study was to further understand the impact of assessing cognitive impairment in psychiatric patients, as a mediating factor on readmission rates. Mild cognitive dysfunction impacts a patient’s functional outcomes (Bowie & Harvey, 2006; Davis et al., 2012; Marcantonio, et al., 2001). Little information exists to guide best practices in the treatment of adults with cognitive impairment who are hospitalized for acute conditions (Davis et al., 2012). A cognitive impairment may impact patient prognosis and ability to function outside of a setting focused on stabilization. Neuropsychological testing is a valuable tool in predicting a patient’s cognitive …


The Last True Roman: The Influence Of Justinian The Great On Early Medieval Byzantium, 527-1025, Reece P. Pockat Feb 2024

The Last True Roman: The Influence Of Justinian The Great On Early Medieval Byzantium, 527-1025, Reece P. Pockat

Armstrong Undergraduate Journal of History

This paper deals with the long-term impacts of the reign of Byzantine emperor Justinian the Great within the realms of military, political, and religious affairs. By utilizing the writings of the Byzantine historian Procopius, a contemporary of Justinian, as well as the writings of modern historians, the goal of the paper is to show the extent to which Justinian's influence is felt throughout the Early Middle Ages, defined in this essay as the period from 467 to 1100.


Sparse Bayesian Variable Selection In High‐Dimensional Logistic Regression Models With Correlated Priors, Zhuanzhuan Ma, Zifei Han, Souparno Ghosh, Liucang Wu, Min Wang Feb 2024

Sparse Bayesian Variable Selection In High‐Dimensional Logistic Regression Models With Correlated Priors, Zhuanzhuan Ma, Zifei Han, Souparno Ghosh, Liucang Wu, Min Wang

School of Mathematical & Statistical Sciences Faculty Publications

In this paper, we propose a sparse Bayesian procedure with global and local(GL) shrinkage priors for the problems of variable selection and classification in high-dimensional logistic regression models. In particular, we consider two types of GL shrinkage priors for the regression coefficients, the horseshoe (HS)prior and the normal-gamma (NG) prior, and then specify a correlated prior for the binary vector to distinguish models with the same size. The GL priors are then combined with mixture representations of logistic distribution to construct a hierarchical Bayes model that allows efficient implementation of a Markov chain Monte Carlo (MCMC) to generate samples from …


The Buzz Within: The Role Of The Gut Microbiome In Honeybee Social Behavior, J. B. Nguyen, Christopher Marshall, Chelsea N. Cook Feb 2024

The Buzz Within: The Role Of The Gut Microbiome In Honeybee Social Behavior, J. B. Nguyen, Christopher Marshall, Chelsea N. Cook

Biological Sciences Faculty Research and Publications

Gut symbionts influence the physiology and behavior of their host, but the extent to which these effects scale to social behaviors is an emerging area of research. The use of the western honeybee (Apis mellifera) as a model enables researchers to investigate the gut microbiome and behavior at several levels of social organization. Insight into gut microbial effects at the societal level is critical for our understanding of how involved microbial symbionts are in host biology. In this Commentary, we discuss recent findings in honeybee gut microbiome research and synthesize these with knowledge of the physiology and behavior …


Schizachyrium Scoparium (C4) Better Tolerates Drought Than Andropogon Gerardii (C4) Via Constant Co2 Supply For Photosynthesis During Water Stress, Alina Dekirmenjian, Diego Montano, Michelle L. Budny, Nathan P. Lemoine Feb 2024

Schizachyrium Scoparium (C4) Better Tolerates Drought Than Andropogon Gerardii (C4) Via Constant Co2 Supply For Photosynthesis During Water Stress, Alina Dekirmenjian, Diego Montano, Michelle L. Budny, Nathan P. Lemoine

Biological Sciences Faculty Research and Publications

Climate change is dramatically altering global precipitation patterns across terrestrial ecosystems, making it critically important that we understand both how and why plant species vary in their drought sensitivities. Andropogon gerardii and Schizachyrium scoparium, both C4 grasses, provide a model system for understanding the physiological mechanisms that determine how species of a single functional type can differ in drought responses, an issue remains a critical gap in our ability to model and predict the impacts of drought on grassland ecosystems. Despite its greater lability of foliar water content, previous experiments have demonstrated that S. scoparium maintains higher photosynthetic …


Ras/Mapk Signaling Mediates Adipose Tissue Control Of Ovarian Germline Survival And Ovulation In Drosophila Melanogaster, Tancia Bradshaw, Chad Simmons, Rachael Ott, Alissa Richmond Armstrong Feb 2024

Ras/Mapk Signaling Mediates Adipose Tissue Control Of Ovarian Germline Survival And Ovulation In Drosophila Melanogaster, Tancia Bradshaw, Chad Simmons, Rachael Ott, Alissa Richmond Armstrong

Faculty Publications

From insects to humans, oogenesis is tightly linked to nutritional input, yet little is known about how whole organism physiology matches dietary changes with oocyte development. Considering that diet-induced adipose tissue dysfunction is associated with an increased risk for fertility problems, and other obesity-associated pathophysiologies, it is critical to decipher the cellular and molecular mechanisms linking adipose nutrient sensing to remote control of the ovary and other tissues. Our previous studies in Drosophila melanogaster have shown that amino acid sensing, via the amino acid response pathway and mTOR-mediated signaling function within adipocytes to control germline stem cell maintenance and ovulation, …


Application Of The Adverse Childhood Experiences Framework To The Nicu, Kathryn J. Malin, Dorothy Vittner, Darilek Umber, Kelly Mcglothen-Bell, Allison Crawford, Rebecca Koerner, Britt Frisk Pados, Diana Cartegena, Jacqueline M. Mcgrath, Ashlee J. Vance Feb 2024

Application Of The Adverse Childhood Experiences Framework To The Nicu, Kathryn J. Malin, Dorothy Vittner, Darilek Umber, Kelly Mcglothen-Bell, Allison Crawford, Rebecca Koerner, Britt Frisk Pados, Diana Cartegena, Jacqueline M. Mcgrath, Ashlee J. Vance

College of Nursing Faculty Research and Publications

Background:

Infants and families requiring neonatal intensive care unit (NICU) care often experience significant stress and trauma during the earliest period of the infant's life, leading to increased risks for poorer infant and family outcomes. There is a need for frameworks to guide clinical care and research that account for the complex interactions of generational stress, pain, toxic stress, parental separation, and lifelong health and developmental outcomes for infants and families.

Purpose:

Apply the Adverse Childhood Experiences (ACEs) framework in the context of the NICU as a usable structure to guide clinical practice and research focused on infant neurodevelopment outcomes …


Novel Hemizygous Single-Nucleotide Duplication In Rpgr In A Patient With Retinal Dystrophy And Sensorineural Hearing Loss, Ryan J German, Blake Vuocolo, Liesbeth Vossaert, Nichole Owen, Richard A Lewis, Lisa Saba, Texome Project, Michael F Wangler, Sandesh Nagamani Feb 2024

Novel Hemizygous Single-Nucleotide Duplication In Rpgr In A Patient With Retinal Dystrophy And Sensorineural Hearing Loss, Ryan J German, Blake Vuocolo, Liesbeth Vossaert, Nichole Owen, Richard A Lewis, Lisa Saba, Texome Project, Michael F Wangler, Sandesh Nagamani

Duncan NRI Faculty and Staff Publications

Background: The RPGR gene has been associated with X-linked cone-rod dystrophy. This report describes a variant in RPGR detected with exome sequencing (ES). Genes like RPGR have not always been included in panel-based testing and thus genome-wide tests such as ES may be required for accurate diagnosis.

Methods: The Texome Project is studying the impact of ES in medically underserved patients who are in need of genomic testing to guide diagnosis and medical management. The hypothesis is that ES could uncover diagnoses not made by standard medical care.

Results: A 58-year-old male presented with retinitis pigmentosa, sensorineural hearing loss, and …


Matr3 Pathogenic Variants Differentially Impair Its Cryptic Splicing Repression Function, Mashiat Khan, Xiao Xiao Lily Chen, Michelle Dias, Jhune Rizsan Santos, Sukhleen Kour, Justin You, Rebekah Van Bruggen, Mohieldin M M Youssef, Ying-Wooi Wan, Zhandong Liu, Jill A Rosenfeld, Qiumin Tan, Udai Bhan Pandey, Hari Krishna Yalamanchili, Jeehye Park Feb 2024

Matr3 Pathogenic Variants Differentially Impair Its Cryptic Splicing Repression Function, Mashiat Khan, Xiao Xiao Lily Chen, Michelle Dias, Jhune Rizsan Santos, Sukhleen Kour, Justin You, Rebekah Van Bruggen, Mohieldin M M Youssef, Ying-Wooi Wan, Zhandong Liu, Jill A Rosenfeld, Qiumin Tan, Udai Bhan Pandey, Hari Krishna Yalamanchili, Jeehye Park

Duncan NRI Faculty and Staff Publications

Matrin-3 (MATR3) is an RNA-binding protein implicated in neurodegenerative and neurodevelopmental diseases. However, little is known regarding the role of MATR3 in cryptic splicing within the context of functional genes and how disease-associated variants impact this function. We show that loss of MATR3 leads to cryptic exon inclusion in many transcripts. We reveal that ALS-linked S85C pathogenic variant reduces MATR3 solubility but does not impair RNA binding. In parallel, we report a novel neurodevelopmental disease-associated M548T variant, located in the RRM2 domain, which reduces protein solubility and impairs RNA binding and cryptic splicing repression functions of MATR3. Altogether, our research …


Angptl3 Deficiency Impairs Lipoprotein Production And Produces Adaptive Changes In Hepatic Lipid Metabolism, Kendall H Burks, Yan Xie, In-Hyuk Jung, Sandip Mukherjee, Paul Lee, Upasana Pudupakkam, Ryan Wagoner, Ved Patel, Katherine Santana, Arturo Alisio, Brian N Finck, Nicholas O Davidson, Nathan O Stitziel, Et Al. Feb 2024

Angptl3 Deficiency Impairs Lipoprotein Production And Produces Adaptive Changes In Hepatic Lipid Metabolism, Kendall H Burks, Yan Xie, In-Hyuk Jung, Sandip Mukherjee, Paul Lee, Upasana Pudupakkam, Ryan Wagoner, Ved Patel, Katherine Santana, Arturo Alisio, Brian N Finck, Nicholas O Davidson, Nathan O Stitziel, Et Al.

2020-Current year OA Pubs

Angiopoietin-like protein 3 (ANGPTL3) is a hepatically secreted protein and therapeutic target for reducing plasma triglyceride-rich lipoproteins and low-density lipoprotein (LDL) cholesterol. Although ANGPTL3 modulates the metabolism of circulating lipoproteins, its role in triglyceride-rich lipoprotein assembly and secretion remains unknown. CRISPR-associated protein 9 (CRISPR/Cas9) was used to target ANGPTL3 in HepG2 cells (ANGPTL3