Digital Commons Network^™

Carbonic Anhydrase Inhibition Sensitizes Group 3 Medulloblastoma To Radiotherapy, Cory M Richman, Alexandra Rasnitsyn, Borja L Holgado, Maria Vladoiu, Namal Abeysundara, Sandra Majo, Sara Chabi, Lucie J Taunay, Hiromichi Suzuki, Ichiyo Shibahara, Joonas Haapasalo, Jonelle G Pallotta, Tajana Douglas, Kaitlin Kharas, Kyle Juraschka, Oliver Ocsenas, Sachin A Kumar, Kristiina Nordfors, Ana Guerreiro Stücklin, Raul A Suarez, Jiao Zhang, Xiaochong Wu, Craig Daniels, Livia Garzia, Jüri Reimand, Olivier Saulnier, Thomas E Merchant, Celio Pouponnot, David R Raleigh, Michael D Taylor, Pasqualino De Antonellis

Faculty, Staff and Students Publications

Group 3 (G3) medulloblastoma constitutes the most aggressive molecular subgroup, and nearly all patients present with metastases upon recurrence. Treatment for newly diagnosed medulloblastoma relies on a combination of maximal safe surgical resection, followed by chemotherapy and ionizing radiation, and no therapies have been shown to confer a survival benefit at the time of recurrence. Given the limited therapeutic options available for patients with medulloblastoma, especially at recurrence, and the incomplete understanding of the molecular mechanisms underlying resistance to treatment, we sought to uncover actionable targets and biomarkers that could help refine patient selection and treatment of newly diagnosed medulloblastoma …

Author Correction: Clonal Dynamics And Somatic Evolution Of Haematopoiesis In Mouse, Chiraag D Kapadia, Nicholas Williams, Kevin J Dawson, Caroline Watson, Matthew J Yousefzadeh, Duy Le, Kudzai Nyamondo, Sreeya Kodavali, Alex Cagan, Sarah Waldvogel, Xiaoyan Zhang, Josephine De La Fuente, Daniel Leongamornlert, Emily Mitchell, Marcus A Florez, Krzysztof Sosnowski, Rogelio Aguilar, Alejandra Martell, Anna Guzman, David Harrison, Laura J Niedernhofer, Katherine Y King, Peter J Campbell, Jamie Blundell, Margaret A Goodell, Jyoti Nangalia

Faculty, Staff and Students Publications

No abstract provided.

Aging Affects Lipid Homeostasis In Lacrimal Glands By Upregulating Lipogenesis And Changing Its Specificity, Seher Yuksel, Prashant Kumar, Sydney E Krenz, Kaitlin K Scholand, Zhiyuan Yu, Anastasiia Ivanova, Helen P Makarenkova, Sarah F Hamm-Alvarez, Igor A Butovich, Cintia S De Paiva

Faculty, Staff and Students Publications

Purpose: The lacrimal gland (LG) develops age-related alterations. This study investigated the lipid content of the accumulated secretions within the murine aged LG.

Methods: C57BL/6J animals of different ages (3 months, 12 months, and 20-26 months) were used. Published data of bulk RNA sequencing of aged LGs were used to investigate lipid pathways. Exorbital LGs were excised for histology or PCR. Histologic sections were stained with standard histochemical stains or immunostained using anti-adiponectin, anti-perilipin 2 antibodies, and BODIPY dye. LG lipidomes were investigated using unbiased, untargeted high-resolution liquid chromatography/mass spectrometry (LC/MS), and the data were processed using unbiased, untargeted principal …

Endoglin-Directed Car T Cells Comprehensively Target Tumors In Advanced Sarcomas, Harrison R Berger, Malina Maharana, Jeneffer Mirabal, Lyazat Kurenbekova, Alberto Delaidelli, Atreyi Dasgupta, Ahmed Z Gad, Mohamed F Sheha, Sybrina S Kerr, Ada I Ozcan, Jessica S Morris, Angela M Major, M John Hicks, Mary K Mckenna, Ben K Seon, Matthew L Baker, Poul H Sorensen, Meenakshi Hegde, Jason T Yustein, Nabil Ahmed, Sujith K Joseph

Faculty, Staff and Students Publications

There are limited therapeutic options for patients with advanced sarcomas, which leads to dismal outcomes for children and adults. Although chimeric antigen receptor (CAR) T cells hold promise for treating advanced sarcomas, this approach is constrained by a paucity of effective targets. Our previous clinical study identified endoglin (ENG/CD105), a TGFβ coreceptor, as a target of the endogenous immune response in a patient with sarcoma who exhibited an exceptional response to HER2-targeted CAR T-cell therapy. ENG is expressed on various sarcomas, cancer-associated fibroblasts, and neoangiogenic vessels and therefore offers comprehensive tumor targeting. Furthermore, ENG knockout in sarcoma cells reduces their …

Using Latent Patient-Centered Fear Extinction Profiles To Guide Treatment In Pediatric Ocd, Katherine M Ingram, Eric A Storch, Daniel A Geller, Brent J Small, Sabine Wilhelm, Joseph F Mcguire

Faculty, Staff and Students Publications

Background: While exposure with response prevention (ERP) is the frontline treatment for pediatric obsessive-compulsive disorder (OCD), not all patients benefit. Impairments in extinction learning are implicated in pediatric OCD's etiology and treatment, with impaired pre-treatment extinction learning associated with worse ERP outcomes. However, available methods for assessing patients' difficulties with fear extinction are costly and underdeveloped. In response, we used person-centered profiles to characterize latent fear extinction patterns among youth with OCD, and investigated the degree to which scores on common rating scales correspond to profile membership.

Methods: Youth with OCD (n=98) completed a diagnostic clinical battery followed by a …

Implementation Of A Package Of Emergency Care Interventions And Clinical Outcomes, Corey B Bills, Paul Wesseh, Catherine Cooper, Taylor W Burkholder, Lane Epps, Michael Jaung, Emilie J Calvello Hynes, Alex Mayah, John K Shakpeh, Kayla Enriquez

Faculty, Staff and Students Publications

Importance: Investments in emergency care systems are vital to ensuring universal health coverage and improving health outcomes in low- and middle-income countries.

Objective: To assess whether a package of emergency care interventions is associated with improved patient mortality and clinical care quality.

Design, setting, and participants: This pre-post quality improvement study was conducted at a single urban referral hospital emergency unit (EU) in Monrovia, Liberia, to assess clinical and educational outcomes resulting from the implementation of a package of interventions from January 1, 2018, through June 30, 2019. Final analysis was performed in November 2023. Data from a random subset …

Plasma Proteome Correlations With Liver Stiffness In Pediatric Cholestasis Implicate Epithelial To Mesenchymal Transition, Benjamin L Shneider, Rupa S Kanchi, Sandra L Grimm, Sridevi Devaraj, Juliet Emamaullee, Jeremy Schraw, Philip J Lupo, Jorge A Bezerra, Kathleen M Loomes, John C Magee, Ronald J Sokol, Kasper S Wang, Alyssa Kriegmeier, Evelyn Hsu, Jean P Molleston, Philip Rosenthal, Rohit Kohli, Saul J Karpen, Simon P Horslen, M Kyle Jensen, Arianna Barbetta, Cristian Coarfa

Faculty, Staff and Students Publications

Background: Pediatric cholestatic liver diseases can be characterized by rapidly progressive fibrosis. A multicenter cross-sectional analysis of vibration-controlled elastography in biliary atresia (BA), alpha-1 antitrypsin deficiency (A1AT), and Alagille syndrome (ALGS) was leveraged to interrogate the plasma proteome relative to liver stiffness measurements (LSM).

Methods: Slow off-rate modified aptamer scanning profiling of >7000 proteins in plasma from 187 children with BA (n=93), A1AT (n=31), ALGS (n=46), and healthy pediatric controls (n=17) was performed, and correlations with LSM were undertaken.

Results: There was an abundance of LSM correlated proteins (BA n=2720, A1AT n=694, ALGS n=5968). Interestingly, a distinct plasma proteome was …

Documents From The October 1, 2025 Meeting Of The Associated Students Of The University Of Montana (Asum), Associated Students Of The University Of Montana, Kate Austin Payne

Senate Meeting Agendas and Minutes, 2007-Present

Agenda and meeting minutes from the October 1, 2025 meeting of the Associated Students of the University of Montana (ASUM).

High Prevalence Of Abnormal Baseline Lung Function In Pediatric And Young Adult Hematopoietic Stem Cell Transplant Recipients: A Report From The Transpire Study, Jane Koo, Richard Cooper, Stephanie L Edwards, Adam Lane, Sara Katherine Loveless, Lauren Strecker, Kelly E Lake, Kasiani C Myers, Christopher Towe, Jessica Patti, Laura L Walkup, Kathryn A Wikenheiser-Brokamp, Margaret L Macmillan, Philip Lacher, Tamara Griffin, Merve Tekman, Gabriel Salinas Cisneros, Kevin Wu, Matthew S Zinter, Fernando A Urrego, K Scott Baker, Matthew F Abts, Sheri Ballard, Jason L Freedman, Alexander Caraballo, Lisa R Young, Maureen B Josephson, Julian L Allen, Devaney M Camburn, Erin E Doherty, Mashid Sababi Azamian, Martha Arredondo, Manuel Silva-Carmona, Leslie E Lehmann, Wai Wong, Jonathan M Gaffin, William Mcalpine, Mona Li, Samuel B Goldfarb, Jason C Woods, Stella M Davies

Faculty, Staff and Students Publications

Background: Pulmonary complications are a major cause of morbidity and mortality in pediatric and young adult hematopoietic stem cell transplant (HSCT) recipients. The impact of preexisting lung dysfunction on posttransplant outcomes remains understudied.

Methods: In a multi-institutional prospective cohort of 444 patients (≤24 years) undergoing allogeneic HSCT at eight centers, baseline lung function was categorized as normal or abnormal using clinical history, imaging, pulmonary function tests (PFTs), and pulmonologist review. Spirometry and diffusion capacity were assessed at baseline, Day 100, 1 year, and 2 years post-HSCT.

Results: Baseline pulmonary dysfunction was present in 224 patients (50.4%), including impaired spirometry (46.4%), …

Is Bedtime Use Of Kratom (Mitragyna Speciosa) A Sleep Aid Or Disruptor? Examining Its Daily Effects And Individual Differences, Chung Jung Mun, Patricia Timmons, Leigh V Panlilio, Christopher D Verrico, Ynhi T Thomas, C Austin Zamarripa, David H Epstein, Kirsten E Smith

Faculty, Staff and Students Publications

Kratom (Mitragyna speciosa) is a psychoactive botanical native to Southeast Asia increasingly used in the U.S. for various self-reported benefits, including sleep improvement. However, empirical evidence concerning kratom’s effects on sleep is limited. Here, we examined the association between bedtime kratom use and self-reported sleep outcomes in naturalistic settings across consecutive days, while also exploring sex and chronic pain status as potential moderators. A secondary analysis was conducted using the data from a 15-day ecological momentary assessment (EMA) study of 357 U.S. adults who reported regularly using kratom. Participants made daily reports of their bedtime kratom use and …

Robust Hashing For Improved Cnn Performance In Image-Based Malware Detection, Sanket Shekhar Kulkarni, Fabio Di Troia

Faculty Research, Scholarly, and Creative Activity

This paper presents a comparative study on the impact of robust hashing in enhancing image-based malware classification. While Convolutional Neural Networks (CNNs) have shown promise when working with image-based malware samples, their performance degrades significantly when obfuscation techniques are taken into consideration to hamper the malware classification or detection. To address this, we apply a robust hashing technique that generates invariant visual representations of malware samples, enabling improved generalization under obfuscation implemented as image salting. Using a custom obfuscation method to simulate polymorphic variants, we evaluate MobileNet, ResNet, and DenseNet architectures across five salting conditions (0% to 40%). The results …

Machine Learning For Dissolved Oxygen Prediction In The Manawatu River Catchment, New Zealand, Imokhai T. Tenebe, Eunice O. Babatunde, Nkpa M. Ogarekpe, Egbe Etu Etu, Joshua Emakhu, Kindness E. Etu, Obiora B. Ezeudu, Oluwarotimi S. Oladele

Faculty Research, Scholarly, and Creative Activity

Uncontrolled anthropogenic activities have increased river pollution, resulting in poor water quality and a growing need for continuous monitoring, which is time-consuming and costly. This study evaluated the accuracy of machine learning (ML) models in predicting dissolved oxygen (DO) levels, aiming to reduce field monitoring efforts and minimize the number of measured parameters. Regression models (Huber, Linear, Ridge), Bagging methods (Extra Trees, Random Forest, Decision Trees), and Boosting techniques (Gradient Boosting, Light Gradient Boosting, AdaBoost) were tested using data from three sites in the Manawatu Catchment, New Zealand. Data spanning 1989–2014 included 12 water quality variables and was split into …

Effects Of The Kcnq (Kv7) Channel Opener Ezogabine On Resting-State Functional Connectivity Of Striatal Brain Reward Regions, Depression, And Anhedonia In Major Depressive Disorder: Results From A Randomized Controlled Trial, Avijit Chowdhury, Sarah Boukezzi, Sara Costi, Sara Hameed, Yael Jacob, Ramiro Salas, Dan V Iosifescu, Ming-Hu Han, Alan Swann, Sanjay J Mathew, Laurel Morris, James W Murrough

Faculty, Staff and Students Publications

Background: Major depressive disorder (MDD) is a leading cause of disability worldwide, with available treatments often showing limited efficacy. Recent research suggests that targeting specific subtypes of depression and understanding the underlying brain mechanisms can improve treatment outcomes. This study investigates the potential of the potassium KCNQ (Kv7) channel opener ezogabine to modulate the resting-state functional connectivity (RSFC) of the brain's reward circuitry and alleviate depressive symptoms, including anhedonia, a core feature of MDD.

Methods: A double-blind, randomized, placebo-controlled clinical trial in individuals with MDD ages 18 to 65 years compared daily dosing with ezogabine (n= 19) with placebo (n …

Molecular And Genetic Landscapes Of Retina And Brain Microglia In Neurodegenerative Diseases, Khang Ma, Rinki Ratnapriya

Faculty, Staff and Students Publications

Microglia-driven dysregulation has emerged as a significant underlying mechanism in many neurodegenerative diseases, such as age-related macular degeneration (AMD) and Alzheimer's disease (AD). Although both brain and retinal microglia originate from the yolk sac, it is uncertain whether they share molecular similarities or genetic and molecular foundations related to neurodegenerative diseases. In this study, we examine the transcriptomic and epigenetic profiles of retina and brain microglia through integrative analyses of single-nucleus RNA sequencing (snRNA-seq) and single-nucleus ATAC sequencing (snATAC-seq) from 97 independent human samples across 11 different studies. Our findings reveal that retina and brain microglia share similar expression and …

Digital Regulation And Development: A Global Micro And Macro Comparison, Katrin Kuhlmann

Georgetown Law Faculty Publications and Other Works

Regulation of the digital economy is receiving increased attention both domestically and internationally, but too little scholarship exists assessing the degree to which these new rules effectively support economic, social, and sustainable development. This Article advances a micro-macro framework for assessing digital regulation and its development dimension, including digital inclusion and measures to address the digital divide, the protection of human rights, and the operationalization of the United Nations’ Sustainable Development Goals. In doing so, it incorporates a “micro international law” methodology to compare domestic legal design features and trace their diffusion into regional trade agreements and, in turn, into …

Fairer Public Benefit In Copyright Law, Amanda Levendowski Tepski

Georgetown Law Faculty Publications and Other Works

In 1966, a court considered expressly whether a secondary use of copyrighted works served a public benefit. While public benefit has become a subfactor of the fair use doctrine, it remains undefined, uncodified, and undertheorized. Courts often invoked public benefit in pivotal cases involving novel technologies, from home video recorders to digital libraries to algorithms--but they did not need to. After the recent Supreme Court decision in Google v. Oracle, however, public benefit is unavoidable: The Court stated that “we must take into account the public benefits the copying will likely produce.” A qualitative analysis of key public benefit cases …

Eeg And Media Multitasking: Adhd As A Moderating Factor, Xiaoying Guo

Theses and Dissertations

Media use has become an integral part of everyday life. It has risen dramatically over the past century with the advent of television, computers, and digital platforms, and more recently, it has been characterized by individuals using multiple devices simultaneously (Bushman & Anderson, 2001; Nielsen Media Research, 1998; Rideout & Robb, 2019, 2021). Media multitasking (MMT) has been linked to cognitive control challenges and attentional difficulties. This study examined EEG workload (Fz theta/Pz alpha ratio), survey accuracy, and ADHD traits (ASRS v1.1) in 33 adult participants across baseline and single-versus dual-media conditions. Results indicated that mental workload was significantly higher …

Correction: Ron Signalling Promotes Therapeutic Resistance In Esr1 Mutant Breast Cancer, Derek Dustin, Guowei Gu, Amanda R Beyer, Sarah K Herzog, David G Edwards, Hangqing Lin, Thomas L Gonzalez, Sandra L Grimm, Cristian Coarfa, Doug W Chan, Beom-Jun Kim, Jean-Paul De La O, Matthew J Ellis, Dan Liu, Shunqiang Li, Alana L Welm, Suzanne A W Fuqua

Faculty, Staff and Students Publications

No abstract provided.

Otolith Microchemistry Reveals Contribution Of Hatchery-Origin Walleye In Lake Oahe, South Dakota, Mark J. Fincel, Cameron W. Goble, Gregory W. Whitledge, Katy Dawson, Jill A. Olin

Michigan Tech Publications

Objective: In Lake Oahe, South Dakota, recent stockings of fingerling Walleye Sander vitreus (every year from 2017 to 2019) have coincided with increased relative abundance of catchable-size Walleye. However, it is unknown if these fish originated from hatchery stockings or were produced naturally within Lake Oahe. Thus, we sought to use otolith microchemistry to delineate wild- versus hatchery-origin Walleye in Lake Oahe. Methods: In fall 2020, we collected age-0 through age-6 Walleye (n = 349) from Lake Oahe to determine fish origin during the standard gill-net survey. We used published water and otolith microchemical signatures to assign origin to collected …

Machine Learning Classification Of Eeg Responses To Pain-Related Vs Non-Pain-Related Stimulus In Preterm Infants, Lojain Hamwi, Hang Du, Sara Jasim, Xiaogang Wang, Vibhuti Shah, Carol Cheng, Lorenzo Fabrizi, Maria Fitzgerald, Judith Meek, Nicole Racine, Ian Stedman, Rebecca Pillai Riddell

Michigan Tech Publications

INTRODUCTION: Unmanaged pain in preterm infants can lead to long-term developmental consequences. Current pain assessment methods lack specificity, resulting in possible pain mismanagement in Neonatal Intensive Care Units (NICUs). This study explores the application of machine learning (ML) to differentiate between pain-related and non-pain-related cortical activity in preterm infants. OBJECTIVE: To evaluate the performance of ML models in distinguishing cortical EEG activity during a painful procedure in preterm infants across different postmenstrual ages (PMAs). METHODS: This observational study was conducted from June 2015 to May 2024 at Mount Sinai Hospital in Toronto, Canada, and University College London Hospital, United Kingdom. …

Stress Management Strategies In An Investment Firm: A Managerial Perspective, Cheri C. Nelson

Electronic Theses and Dissertations

This qualitative study examined how client relationship managers and market supervision managers in the investment industry experienced, interpreted, and managed workplace stress within the context of organizational culture, leadership practices, and available resources. Guided by the job-demands resources (JD-R) model, semistructured interviews were conducted with participants across multiple markets to investigate the interplay between high job demands, leadership behaviors, and employee well-being. Findings indicated that while trusted colleagues and positive leadership behaviors served as protective resources that reduced strain and fostered resilience, negative attitudes, favoritism, and lack of collaboration among colleagues amplified stress. Communication breakdowns, poorly managed organizational change, and …

Analyzing The Learning Curve Of Vnotes Sacrocolpopexy By The Cumulative Summation Test: A Cohort Study, Wenyu Liu, Nannan Sun, Yuejiao Zhang, Yuyan Li, Weihao Lai, Youjun Zhou, Xiaoming Guan, Juan Liu

Faculty, Staff and Students Publications

Background: The learning curve of transvaginal natural orifice transluminal endoscopic sacrocolpopexy (vNOTES-SC) in the treat of pelvic organ prolapse (POP) is critical yet underexplored. Our objective is to describe the learning curve and surgical complications of vNOTES-SC, taking into account the factors that affect operative time and evaluate the long-term follow-up outcomes of this surgery.

Methods: We conducted a hospital-based cohort study involving patients who underwent vNOTES-SC from June 2017 to May 2024. All surgeries were performed by a single surgeon with over 20 years of surgical experience. This study employed cumulative summation test (CUSUM) analysis to quantify the learning …

Lac-Phe Induces Hypophagia By Inhibiting Agrp Neurons In Mice, Hailan Liu, Veronica L Li, Qingzhuo Liu, Yao Liu, Cunjin Su, Hueyxian Wong, Na Yin, Hesong Liu, Xing Fang, Kristine M Mcdermott, Hueyzhong Wong, Meng Yu, Longlong Tu, Jonathan C Bean, Yongxiang Li, Mengjie Wang, Yue Deng, Yuhan Shi, Olivia Z Ginnard, Yuxue Yang, Junying Han, Megan E Burt, Sanika V Jossy, Chunmei Wang, Yongjie Yang, Benjamin R Arenkiel, Dong Kong, Yang He, Jonathan Z Long, Yong Xu

Faculty, Staff and Students Publications

Lactate-derived N-lactoyl-phenylalanine (Lac-Phe) was recently identified as an lactate-derived circulating metabolite that reduces feeding and obesity, but mechanisms that underlie the metabolic benefits of Lac-Phe remain unknown. Here we demonstrated that Lac-Phe directly inhibits hypothalamic neurons that express Agouti-related protein (AgRP), resulting in an indirect activation of anorexigenic neurons in the paraventricular nucleus of the hypothalamus (PVH). We also found that both AgRP inhibition and PVH activation are required to mediate Lac-Phe-induced hypophagia. Further, we show that Lac-Phe inhibits AgRP neurons via activating the ATP-sensitive potassium (KATP) channel, and inhibition of the KATP channel blunts effects of Lac-Phe to suppress …

Logging And Telemetry Gap Identification Of Remote Vulnerability Exploitation, Ryan Holeman

Masters Theses & Doctoral Dissertations

This research study conducts an analysis and provides a method for the measurement of the effectiveness of various logging standards through a design science methodology with an applied experimentation evaluation. The design science method of this research introduces a purpose-created tool, the Security Exploit Telemetry Collection (SETC) framework, to provide a robust lab environment that records rich, repeatable, and highly configurable security telemetry of attacks against vulnerable services. The framework achieves the collection of security telemetry by hosting and exploiting vulnerable services in a controlled container environment. The applied experimentation component of this research utilizes data produced by SETC to …

Advancing Cybersecurity Assurance: A Novel Outcome-Based Approach For Evaluating Cybersecurity Controls, Yousuf M. Muhammad

Masters Theses & Doctoral Dissertations

The growing frequency and complexity of cyberattacks pose a serious and escalating risk to both individuals and organizations. Current cybersecurity assurance approaches often fall short in effectively measuring the adequacy of cybersecurity controls in terms of mitigating risks and providing measurable value to organizations. The current approaches are often focused on measuring compliance with predetermined requirements as defined in government regulation or an industry standard, thereby overlooking the need for a holistic approach that incorporates all aspects of security. This dissertation is an attempt to address this gap by developing a novel outcome-based cybersecurity assurance approach.

The research problem focused …

Inhibition Of Ros1 Activity With Lorlatinib Reversibly Suppresses Fertility In Male Mice, Yuki Oyama, Kentaro Shimada, Haruhiko Miyata, Rie Iida-Norita, Chihiro Emori, Maki Kamoshita, Seiya Oura, Ryohei Katayama, Martin M Matzuk, Masahito Ikawa

Faculty, Staff and Students Publications

Background: Inhibition of sperm maturation in the epididymis is a promising post-testicular strategy for short-acting male contraceptives. It has been shown that ROS1, a receptor tyrosine kinase expressed in the epididymis, is essential for epididymal differentiation, sperm maturation, and male fertility in mice. However, it is unknown if inhibition of ROS1 suppresses male fertility reversibly.

Objectives: Our study aimed to investigate the effects of ROS1 inhibitor administration in male mice on sperm function and fertility.

Materials and methods: We used lorlatinib, an anti-cancer drug that inhibits ROS1. We treated 10-week-old sexually mature male mice with lorlatinib for 3 weeks and …

Bi-Allelic Loss-Of-Function Variants In Poc5 Cause A Syndromic Retinal, Endocrine, And Neuromuscular Ciliopathy, Anneke T Vulto-Van Silfhout, Ingrid M Jazet, Suzanne Yzer, Jeroen Pas, Serwet Demirdas, Elisabeth F C Van Rossum, Alberta A H J Thiadens, Ronald Van Beek, Lonneke Haer-Wigman, Daniela Q C M Barge-Schaapveld, Charlotte Brasch-Andersen, Simon Frost, Miriam Bauwens, Elfride De Baere, Irina Balikova, Filip Van Den Broeck, Monika Weisz-Hubshman, Pascal Joset, Peter Miny, Isabel Filges, Susanne Kohl, Pietro De Angeli, Laura Kühlewein, Jan-Philipp Bodenbender, Tobias Haack, Karin Poths, Lidia Fernandez-Caballero, Marta Corton, Fiona Blanco Kelly, Carmen Ayuso, Peggy Martínez-Esteban, John Vissing, Jordi Díaz-Manera, Volker Straub, Ana Töpf, Siying Lin, Gavin Arno, William L Macken, Jennifer Spillane, Radha Ramachandran, Erik De Vrieze, Tjakko Van Ham, Susanne Roosing, Machteld M Oud

Faculty, Staff and Students Publications

Purpose: A homozygous loss-of-function (LoF) variant in POC5 was previously described in an individual with retinitis pigmentosa. We identified POC5 variants in 12 probands with a syndromic phenotype. We aim to define the phenotype spectrum and molecular mechanism associated with biallelic POC5 LoF variants.

Methods: We studied a cohort of 12 families with bi-allelic LoF POC5 variants and performed detailed phenotype analysis. POC5 localization studies were performed in 3 proband-derived fibroblast cell lines.

Results: Detailed phenotyping of probands with POC5 variants expands the phenotype spectrum beyond ocular manifestations. This syndrome causes not only rod-cone dystrophy but also diabetes mellitus with …

Metabolic Acidosis And Cardiovascular Disease Risk In Children With Ckd., Denver D. Brown, Jennifer Roem, Kimberly Reidy, Susan Furth, Bradley A. Warady, Michal Melamed, Tammy Brady, Ckid Study Investigators

Manuscripts, Articles, Book Chapters and Other Papers

KEY POINTS: Metabolic acidosis may be associated with adverse cardiovascular disease risk. Prospective studies of the benefit of alkali therapy on cardiovascular disease risk are needed.

BACKGROUND: The link between metabolic acidosis (MA) and cardiovascular disease (CVD) outcomes has been studied in adults but not in children with CKD where MA is a common and early finding. Using longitudinal BP and cardiac measurement data, we evaluated whether low serum bicarbonate (a surrogate for MA) is associated with adverse CVD risk.

METHODS: This study used data from children age 1 year and older with eGFRs between 30 and 90 ml/min per …

Influence Of Maternal Chitosan Feeding During The Transition Period On Lactational Performance Of Jabal Akhdar Goats And Performance Of Respective Kids, Hani M. El-Zaiat, Malek Q. Alissai

Journal of Agricultural and Marine Sciences

The present study aimed to examine the effects of maternal CHI supplementation on biochemical metabolites profile, lactational performance of Jabal Akhdar goats and their kids’ growth performance during the transition period. Twelve Jabal Akhdar Omani pregnant does (with 13 ± 1.50 months and 32.0 ± 3 kg live BW) were allotted in one of three treatment groups (four does/treatment). Goats were offered an experimental diet composed of 650 g kg/head/day of concentrate mixture and free access to Rhodes grass hay. Goats were administered orally with 0.0, 0.2, and 0.4 g/kg DM of CHI for 60 days (i.e. four weeks before …

Effects Of Chitosan Supplement On In Vitro Ruminal Methane Production And Fermentation Profile Using Ruminant Conventional Diet, Hani M. El-Zaiat, Hamza Y. Al Hattali

Journal of Agricultural and Marine Sciences

Chitosan is a nontoxic biopolymer with antimicrobial activities that can modify rumen fermentation patterns. The objective of this experiment was to investigate the effects of increasing levels of chitosan on in vitro ruminal fermentation profile, methane (CH4) production, and nutrient degradability. A control total mixed ration (TMR) was formulated as a 50:50 concentrate to forage ratio. This study employed gas production (GP) system in a completely randomized design with four treatment levels and six replications. Chitosan levels were included at 0 (control), 100, 200, or 300 g/kg of diet dry matter. After 24 h of fermentation, ruminal net GP (P …