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Alleyne V. Mear Oct 2024

Alleyne V. Mear

All Decisions

In this holdover proceeding, the court dismissed the case due to the defective 90-day notice of termination, which did not align with the tenant's lease terms as mandated by RPL § 232-a. The tenant's lease, starting May 15, 2017, established rent due by the 15th of each month. The court found that any modification of these terms requires mutual agreement, which was not demonstrated. Thus, the termination notice's date of the 31st was deemed invalid, resulting in dismissal.


Delayed Emergence Of Isolated Secondary Adrenal Insufficiency: A Case Report, Angela Blanco, Deepa Sharma Oct 2024

Delayed Emergence Of Isolated Secondary Adrenal Insufficiency: A Case Report, Angela Blanco, Deepa Sharma

All Publications

Secondary adrenal insufficiency (SAI) is a rare condition caused by adrenocorticotropic hormone (ACTH) deficiency, which disrupts ACTH secretion by the pituitary gland and can lead to chronic hyponatremia. However, idiopathic delayed onset of isolated adrenal insufficiency without triggering factors is an unusual finding and poses a challenging diagnosis. We present the case of an 80-year-old woman with hypothyroidism, hypertension, previous tobacco use, and squamous cell carcinoma of the ankle who presented with weakness and fatigue. Blood work showed hyponatremia (126 mmol/L), nonfasting blood glucose of 139 mg/dL, and elevated erythrocyte sedimentation rate (ESR, 83 mm/hr). Initial treatment included urea administration …


Assessment Of The Dose Coverage At The Ptv For Ebrt For Cervical Cancer Treatment Plan Using Aaa Varian Eclipse Tps At Ocean Road Cancer Institute, Tanzania, Kelvin G. Ngowi, Mwingereza J. Kumwenda, Khamis O. Amour Oct 2024

Assessment Of The Dose Coverage At The Ptv For Ebrt For Cervical Cancer Treatment Plan Using Aaa Varian Eclipse Tps At Ocean Road Cancer Institute, Tanzania, Kelvin G. Ngowi, Mwingereza J. Kumwenda, Khamis O. Amour

Tanzania Journal of Science

The implementation of the Eclipse treatment planning system software (Version 15.1) at Ocean Road Cancer Institute (ORCI), Tanzania has made the Anisotropic Analytical Algorithm (AAA) the necessary routine tool for dose calculations. However, the accuracy of the AAA algorithm in planning doses specifically for cervical cancer treatment is not well known. Therefore, this study investigated the accuracy of the AAA in dose calculation in terms of the dose coverage at the Plan Target Volume (PTV) for cervical cancer treatment at the ORCI. 50 treatment plans of adult patients with International Federation of Gynecology and Obstetrics (FIGO) stage IB-IIIB cervical cancer …


Multivariable Mendelian Randomization With Incomplete Measurements On The Exposure Variables In The Hispanic Community Health Study/Study Of Latinos, Yilun Li, Kin Yau Wong, Annie Green Howard, Penny Gordon-Larsen, Heather M Highland, Mariaelisa Graff, Kari E North, Carolina G Downie, Christy L Avery, Bing Yu, Kristin L Young, Victoria L Buchanan, Robert Kaplan, Lifang Hou, Brian Thomas Joyce, Qibin Qi, Tamar Sofer, Jee-Young Moon, Dan-Yu Lin Oct 2024

Multivariable Mendelian Randomization With Incomplete Measurements On The Exposure Variables In The Hispanic Community Health Study/Study Of Latinos, Yilun Li, Kin Yau Wong, Annie Green Howard, Penny Gordon-Larsen, Heather M Highland, Mariaelisa Graff, Kari E North, Carolina G Downie, Christy L Avery, Bing Yu, Kristin L Young, Victoria L Buchanan, Robert Kaplan, Lifang Hou, Brian Thomas Joyce, Qibin Qi, Tamar Sofer, Jee-Young Moon, Dan-Yu Lin

Faculty, Staff and Student Publications

Multivariable Mendelian randomization allows simultaneous estimation of direct causal effects of multiple exposure variables on an outcome. When the exposure variables of interest are quantitative omic features, obtaining complete data can be economically and technically challenging: the measurement cost is high, and the measurement devices may have inherent detection limits. In this paper, we propose a valid and efficient method to handle unmeasured and undetectable values of the exposure variables in a one-sample multivariable Mendelian randomization analysis with individual-level data. We estimate the direct causal effects with maximum likelihood estimation and develop an expectation-maximization algorithm to compute the estimators. We …


Prevention Of Attacks Via Requested Displayable Content, Mingkui Wei, Yao Liu, Zhuo Lu, Junjie Xiong Oct 2024

Prevention Of Attacks Via Requested Displayable Content, Mingkui Wei, Yao Liu, Zhuo Lu, Junjie Xiong

Computer Science Faculty Research & Creative Works

A method and system disable executable script in requested displayable content. Responsive to requesting displayable content, a non-executable code sequence and a mis-matched font file that maps a plurality of characters of the requested displayable content to the non-executable code sequence is received. The non-executable code sequence is displayed as a text string in accordance with the received mis-matched font file.


2024 October 10 - Tennessee Weekly Drought Summary, Tennessee Climate Office, East Tennessee State University Oct 2024

2024 October 10 - Tennessee Weekly Drought Summary, Tennessee Climate Office, East Tennessee State University

Tennessee Climate Office Weekly Drought Summaries

No abstract provided.


Asia Rogers ‘25 Explores Emotions Of Black Women Through Literature, Jeffery Woodard Oct 2024

Asia Rogers ‘25 Explores Emotions Of Black Women Through Literature, Jeffery Woodard

News and Events (Discontinued Series)

No abstract provided.


Steering Minutes 10/10/2024, Steering Committee Oct 2024

Steering Minutes 10/10/2024, Steering Committee

Steering Committee

No abstract provided.


Impact Of Age On Pharmacogenomics And Treatment Outcomes Of B-Cell Acute Lymphoblastic Leukemia, Satoshi Yoshimura, Zhenhua Li, Yoshihiro Gocho, Wenjian Yang, Kristine R Crews, Shawn H R Lee, Kathryn G Roberts, Charles G Mullighan, Mary V Relling, Jiyang Yu, Allen E J Yeoh, Mignon L Loh, Caner Saygin, Mark R Litzow, Sima Jeha, Seth E Karol, Hiroto Inaba, Ching-Hon Pui, Marina Konopleva, Nitin Jain, Wendy Stock, Elisabeth Paietta, Elias Jabbour, Steven M Kornblau, William E Evans, Jun J Yang Oct 2024

Impact Of Age On Pharmacogenomics And Treatment Outcomes Of B-Cell Acute Lymphoblastic Leukemia, Satoshi Yoshimura, Zhenhua Li, Yoshihiro Gocho, Wenjian Yang, Kristine R Crews, Shawn H R Lee, Kathryn G Roberts, Charles G Mullighan, Mary V Relling, Jiyang Yu, Allen E J Yeoh, Mignon L Loh, Caner Saygin, Mark R Litzow, Sima Jeha, Seth E Karol, Hiroto Inaba, Ching-Hon Pui, Marina Konopleva, Nitin Jain, Wendy Stock, Elisabeth Paietta, Elias Jabbour, Steven M Kornblau, William E Evans, Jun J Yang

Faculty, Staff and Student Publications

Purpose: Acute lymphoblastic leukemia (ALL) can occur across all age groups, with a strikingly higher cure rate in children compared with adults. However, the pharmacological basis of age-related differences in ALL treatment response remains unclear.

Methods: Studying 767 children and 309 adults with newly diagnosed B-cell ALL enrolled on frontline trials at St Jude Children's Research Hospital, MD Anderson Cancer Center, the Alliance for Clinical Trials in Oncology, and the ECOG-ACRIN Cancer Research Group, we determined the ex vivo sensitivity of leukemia cells to 21 drugs. Twenty-three ALL molecular subtypes were identified using RNA sequencing. We systematically characterized the associations …


A Review Of Geopolymer Binder As A Grouting Material, Karla Sierra, Jinwoo An, Ryan Shamet, Jiannan Chen, Yong Je Kim, Boo Hyun Nam, Philip Park Oct 2024

A Review Of Geopolymer Binder As A Grouting Material, Karla Sierra, Jinwoo An, Ryan Shamet, Jiannan Chen, Yong Je Kim, Boo Hyun Nam, Philip Park

Civil Engineering Faculty Publications

The utilization of geopolymer as a grouting material has gained significant attention in research and construction applications. Geopolymer grout is a type of binding material that differs from traditional grouts, typically based on Portland cement. Researchers have explored its effectiveness and potential applications in grouting processes, considering its unique properties and characteristics. In this paper, various studies employing and utilizing geopolymer as a grouting material are reviewed. The emphasis is on mixture design of geopolymer grout, physical property, chemical composition of geopolymer grout, rheological behavior of geopolymer grout such as yield stress (in case of Bingham fluid) and viscosity, and …


Matter Of Hefti V New York State Div. Of Hous. & Community Renewal Oct 2024

Matter Of Hefti V New York State Div. Of Hous. & Community Renewal

All Decisions

The court upheld DHCR's denial of tenant's PAR, finding that there was no fraudulent scheme to deregulate the apartment. DHCR rationally relied on a 2005 order, rejecting tenant's claim that a 2001 rent increase established fraud. The court affirmed the dismissal of the tenant's overcharge claims, denying any award for treble damages, and found no due process violations in the DHCR's proceedings. Article 78 petition.


Under The Surface Of Perfectionism: A Qualitative Examination Of Perfectionism In Women Leaders, Rachelle Martin Oct 2024

Under The Surface Of Perfectionism: A Qualitative Examination Of Perfectionism In Women Leaders, Rachelle Martin

Dissertations

This qualitative study explores the manifestations and management of perfectionism among women leaders, framed through the lens of conservation of resources (COR) theory. By examining the experiences of women across various industries, the research highlights how perfectionism can act both as a strength and a challenge, depending on resource availability and self-awareness. The findings emphasize the compounded pressures faced by women, particularly women of color, and the significant role of self-awareness, coping mechanisms and mitigation techniques. Participants revealed how resource depletion may contribute to heightened perfectionistic tendencies, which subsequently may impact career outcomes. Self-awareness emerged as a moderating factor that, …


Quaker Campus, October 10, 2024 (Vol. 23, Issue 4), Whittier College Oct 2024

Quaker Campus, October 10, 2024 (Vol. 23, Issue 4), Whittier College

Quaker Campus

No abstract provided.


October 10, 2024, James Madison University Oct 2024

October 10, 2024, James Madison University

The Breeze, 2020-

The Breeze is the student newspaper of James Madison University in Harrisonburg, Virginia.


Qualitative Literacy: A Guide To Evaluating Ethnographic And Interview Research, Frida Akmalia Oct 2024

Qualitative Literacy: A Guide To Evaluating Ethnographic And Interview Research, Frida Akmalia

The Qualitative Report

Qualitative Literacy: A Guide to Evaluating Ethnographic and Interview Research by Mario Luis Small and Jessica McCrory Calarco is a comprehensive guide that offers a framework for evaluating the quality of qualitative research. The book is particularly relevant for researchers seeking to assess or enhance the rigor of their qualitative studies. Small and Calarco (2022) introduce five key indicators; cognitive empathy, heterogeneity, palpability, follow-up, and self-awareness that assist readers and researchers in determining whether a qualitative study is well-executed. This review discusses the organization and content of the book, the rationale for selecting it, its strengths and weaknesses, and provides …


Diverse Disconnectedness: Homophily, Social Capital Inequality, And Student Experiences In Law School, Anthony Paik, Swethaa Ballakrishnen, Carole Silver, Steven Boutcher, Tanya Rouleau Whitworth Oct 2024

Diverse Disconnectedness: Homophily, Social Capital Inequality, And Student Experiences In Law School, Anthony Paik, Swethaa Ballakrishnen, Carole Silver, Steven Boutcher, Tanya Rouleau Whitworth

Faculty Publications

Law school students are encouraged frequently to “network.” However, depending on demographic categories, they may have access to differently resourced social networks in law school. In this article, we draw from our mixed-methods research to explore this diversity of experience, its limitations of access, and the possible network inequalities that may limit the value of legal education to diverse students across different institutional contexts. Using survey and network data (N = 744), collected during the fall of 2019 from three law schools, as well as supplementary interview data (N = 55), we examined students’ social networks, the structures of these …


Diverse Disconnectedness: Homophily, Social Capital Inequality, And Student Experiences In Law School, Anthony Paik, Swethaa Ballakrishnen, Carole Silver, Steven Boutcher, Tanya Rouleau Whitworth Oct 2024

Diverse Disconnectedness: Homophily, Social Capital Inequality, And Student Experiences In Law School, Anthony Paik, Swethaa Ballakrishnen, Carole Silver, Steven Boutcher, Tanya Rouleau Whitworth

Faculty Publications

Law school students are encouraged frequently to “network.” However, depending on demographic categories, they may have access to differently resourced social networks in law school. In this article, we draw from our mixed-methods research to explore this diversity of experience, its limitations of access, and the possible network inequalities that may limit the value of legal education to diverse students across different institutional contexts. Using survey and network data (N = 744), collected during the fall of 2019 from three law schools, as well as supplementary interview data (N = 55), we examined students’ social networks, the structures of these …


Whole Genome Analyses Of Introgression In British And Irish Apis Mellifera Mellifera, Victoria G. Buswell, J. Vanessa Huml, Jonathan S. Ellis, Andrew Brown, Mairi E. Knight Oct 2024

Whole Genome Analyses Of Introgression In British And Irish Apis Mellifera Mellifera, Victoria G. Buswell, J. Vanessa Huml, Jonathan S. Ellis, Andrew Brown, Mairi E. Knight

School of Biological and Marine Sciences

The Western honey bee, Apis mellifera (A. mellifera) Linnaeus, is one of the world’s most economically important pollinators. Conserving genetic resources in this species is therefore of significant value. Despite this, little attention has been paid to the potential erosion of locally adapted genetic variants by transhumance of particular subspecies favoured by beekeepers. In particular, introgression and hybridisation by repeated backcrossing can disrupt naturally-selected allele combinations and therefore erode local adaptation. Here we use whole genome sequencing (WGS) to assess levels of introgression in the native subspecies Apis mellifera mellifera (A. m. mellifera) across a wide geographical scale in Britain …


Aligning The World Health Organization's (Who) Package Of Interventions For Rehabilitation For Cancer With The Mission Of The International Psycho-Oncology Society's: Promoting Psychosocial Care For All People Affected By Cancer, Christina Signorelli, Nicolas H. Hart, Louise Mullen, Larissa Nekhlyudov, Luzia Travado, Wendy W.T. Lam, Melissa Henry, Csaba László Dégi, Darren Haywood, Michael Jefford Oct 2024

Aligning The World Health Organization's (Who) Package Of Interventions For Rehabilitation For Cancer With The Mission Of The International Psycho-Oncology Society's: Promoting Psychosocial Care For All People Affected By Cancer, Christina Signorelli, Nicolas H. Hart, Louise Mullen, Larissa Nekhlyudov, Luzia Travado, Wendy W.T. Lam, Melissa Henry, Csaba László Dégi, Darren Haywood, Michael Jefford

Research outputs 2022 to 2026

The number of people living with and beyond cancer continues to increase worldwide, bringing significant attention to their rehabilitation needs. Globally, psychosocial services are largely inadequate, with many cancer survivors experiencing unmet psychosocial needs. The World Health Organization (WHO) recognizes rehabilitation as an essential component of universal health coverage to prevent disease-related conditions, while also improving physical and mental functioning and overall well-being. The Package of Interventions for Rehabilitation (PIR) was developed by the WHO to address the global need for rehabilitation across 20 conditions with high prevalence and high levels of associated disability, including cancer. Many aspects of the …


Churning The Tides Of Care: When Nurse Turnover Makes Waves In Patient Access To Primary Care, Kelley Arredondo, Ashley M Hughes, Houston F Lester, Trang N D Pham, Laura A Petersen, Lechauncy Woodard, Richard Sorelle, Cheng Rebecca Jiang, Frederick L Oswald, Daniel R Murphy, Hilary N Touchett, Joshua Hamer, Sylvia J Hysong Oct 2024

Churning The Tides Of Care: When Nurse Turnover Makes Waves In Patient Access To Primary Care, Kelley Arredondo, Ashley M Hughes, Houston F Lester, Trang N D Pham, Laura A Petersen, Lechauncy Woodard, Richard Sorelle, Cheng Rebecca Jiang, Frederick L Oswald, Daniel R Murphy, Hilary N Touchett, Joshua Hamer, Sylvia J Hysong

Faculty, Staff and Students Publications

BACKGROUND: Team-based primary care (PC) enhances the quality of and access to health care. The Veterans Health Administration (VHA) implements team-based care through Patient Aligned Care Teams (PACTs), consisting of four core members: a primary care provider, registered nurse (RN) care manager, licensed vocational nurse, and scheduling clerk. RNs play a central role: they coordinate patient care, manage operational needs, and serve as a patient point of contact. Currently, it is not known how varying levels of RN staffing on primary care teams impact patient outcomes.

OBJECTIVE: This study aims to empirically assess how the stability of RN staffing within …


Systematic Perturbations Of Setd2, Nsd1, Nsd2, Nsd3, And Ash1l Reveal Their Distinct Contributions To H3k36 Methylation, Gerry A Shipman, Reinnier Padilla, Cynthia Horth, Bo Hu, Eric Bareke, Francisca N Vitorino, Joanna M Gongora, Benjamin A Garcia, Chao Lu, Jacek Majewski Oct 2024

Systematic Perturbations Of Setd2, Nsd1, Nsd2, Nsd3, And Ash1l Reveal Their Distinct Contributions To H3k36 Methylation, Gerry A Shipman, Reinnier Padilla, Cynthia Horth, Bo Hu, Eric Bareke, Francisca N Vitorino, Joanna M Gongora, Benjamin A Garcia, Chao Lu, Jacek Majewski

2020-Current year OA Pubs

BACKGROUND: Methylation of histone 3 lysine 36 (H3K36me) has emerged as an essential epigenetic component for the faithful regulation of gene expression. Despite its importance in development and disease, how the molecular agents collectively shape the H3K36me landscape is unclear.

RESULTS: We use mouse mesenchymal stem cells to perturb the H3K36me methyltransferases (K36MTs) and infer the activities of the five most prominent enzymes: SETD2, NSD1, NSD2, NSD3, and ASH1L. We find that H3K36me2 is the most abundant of the three methylation states and is predominantly deposited at intergenic regions by NSD1, and partly by NSD2. In contrast, H3K36me1/3 are most …


The Grizzly, October 10, 2024, Kate Horan, Zach Cosme, Caitlin Cunnane, Caroline Bennett, Sidney Belleroche, Hadley Whitman, Adam Denn Oct 2024

The Grizzly, October 10, 2024, Kate Horan, Zach Cosme, Caitlin Cunnane, Caroline Bennett, Sidney Belleroche, Hadley Whitman, Adam Denn

Ursinus College Grizzly Newspaper, 1978 to Present

My Big Fat Greek Cleanup • Bear Necessities Draws Big Brother Concern • Free Speech Lecture by Samantha Harris • A Bit About the B'Naturals • IIE Launches Hispanic Heritage Month Celebration • Opinions: How I Learned to Stop Worrying and Love Clamer Hall • Men's Soccer Out to Triumphant Start • Cross Country Gears Up for Strong Finish!


Recent Progress In Modeling And Treating Diabetes Using Stem Cell-Derived Islets, Marlie M Maestas, Maggie H Bui, Jeffrey R Millman Oct 2024

Recent Progress In Modeling And Treating Diabetes Using Stem Cell-Derived Islets, Marlie M Maestas, Maggie H Bui, Jeffrey R Millman

2020-Current year OA Pubs

Stem cell-derived islets (SC-islets) offer the potential to be an unlimited source of cells for disease modeling and the treatment of diabetes. SC-islets can be genetically modified, treated with chemical compounds, or differentiated from patient derived stem cells to model diabetes. These models provide insights into disease pathogenesis and vulnerabilities that may be targeted to provide treatment. SC-islets themselves are also being investigated as a cell therapy for diabetes. However, the transplantation process is imperfect; side effects from immunosuppressant use have reduced SC-islet therapeutic potential. Alternative methods to this include encapsulation, use of immunomodulating molecules, and genetic modification of SC-islets. …


Systematic Review On Self-Control A Predictor Of Work Performance Of Librarians In Public Universities In South Western Nigeria., Tola Abosede Ogunojemite Oct 2024

Systematic Review On Self-Control A Predictor Of Work Performance Of Librarians In Public Universities In South Western Nigeria., Tola Abosede Ogunojemite

Library Philosophy and Practice (e-journal)

The purpose of, this study is to examine how self-control predicts work performance of librarians in public universities in southwestern Nigeria.

The research design adopted for the study was descriptive research survey design of the correlational type. A multi-stage sampling technique was adopted to draw 229 respondents. Data analysis was conducted based on frequency, percentage, mean and standard deviation, to answer the research questions Respondents of this study consisted of males (43.9%) and females (56.1%), majority (28.7%) aged 26-30. The findings revealed that the level of self-control of librarians in public universities in south-western Nigeria was high following the norm …


Literature Review Of Maritime Cyber Security: The First Decade, Avanthika Vineetha Harish, Kimberly Tam, Kevin Jones Oct 2024

Literature Review Of Maritime Cyber Security: The First Decade, Avanthika Vineetha Harish, Kimberly Tam, Kevin Jones

School of Engineering, Computing and Mathematics

This is a comprehensive review of the current body of work for cyber security in the marine and maritime sectors. Reviews are useful as a field develops, both for those new to the field, and those contributing to a section of the existing body of work. This looks at the phases of research, from exploratory and positional papers in the early 2010s, to the more recent experimental research, and how ``maritime cyber security" has branched into subtopics addressing human factors, policy, law, cyber-physical security, and more. In addition to different topics of research, this comprehensive review summaries the focus of …


Perceived Employability Of International Doctoral Students In The Uk: Applying Bronfenbrenner’S Ecological Systems Theory, Fa Wang, Rong Huang, Wai Mun Lim, Jinhua Zhang Oct 2024

Perceived Employability Of International Doctoral Students In The Uk: Applying Bronfenbrenner’S Ecological Systems Theory, Fa Wang, Rong Huang, Wai Mun Lim, Jinhua Zhang

Plymouth Business School

The quality of the UK’s doctorate training system plays a fundamental role in fostering vibrant research outputs and attracting global talent. However, while maintaining a consistently high standard of quality remains static and challenging, little is known about how the employability of international doctorate students is shaped and at what juncture it is opportune to support their employability during their research studies. This paper aims to understand the employability of international doctoral students within business schools at British universities, drawing on Urie Bronfenbrenner’s ecological systems theory as a framework. The qualitative study involves 15 international doctoral students from 9 business …


Lowering The Burden: Shorter Versions Of The Program Sustainability Assessment Tool (Psat) And Clinical Sustainability Assessment Tool (Csat), Sara Malone, Kim Prewitt, Virginia Mckay, Luke Zabotka, Caren Bacon, Douglas A Luke Oct 2024

Lowering The Burden: Shorter Versions Of The Program Sustainability Assessment Tool (Psat) And Clinical Sustainability Assessment Tool (Csat), Sara Malone, Kim Prewitt, Virginia Mckay, Luke Zabotka, Caren Bacon, Douglas A Luke

2020-Current year OA Pubs

BACKGROUND: Although significant advances have been made in the conceptualization of sustainability, having pragmatic, psychometrically valid tools remains a need within the field. Our previous work has developed frameworks and tools to assess both program sustainability and clinical sustainability capacity. This work presents new, psychometrically tested short versions of the Program Sustainability Assessment Tool (PSAT) and the Clinical Sustainability Assessment Tool (CSAT).

METHODS: These methods were conducted in identical, parallel processes for the CSAT and PSAT. Previously collected data for these instruments was obtained across a variety of settings, contexts, and participants. We first conducted testing to determine cronbach's alpha …


Performance Enhancement Of Vanadium Redox Flow Battery With Novel Streamlined Design: Simulation And Experimental Validation, Abdulmonem Fetyan, Bronston P. Benetho, Tawaddod Alkindi, Anugrah Andisetiawan, Musbaudeen O. Bamgbopa, Ayoob Alhammadi, Gumaa A. El-Nagar Oct 2024

Performance Enhancement Of Vanadium Redox Flow Battery With Novel Streamlined Design: Simulation And Experimental Validation, Abdulmonem Fetyan, Bronston P. Benetho, Tawaddod Alkindi, Anugrah Andisetiawan, Musbaudeen O. Bamgbopa, Ayoob Alhammadi, Gumaa A. El-Nagar

All Works

Electrolyte utilization and the consequent concentration polarization significantly limit the potential increase in power density and contribute to electrode degradation in vanadium redox flow batteries during cycling. This study investigates a novel curvature streamlined design, drawing inspiration from natural forms, aiming to enhance the performance of vanadium redox flow battery cells compared to conventional square and rectangular flow-through cell designs. The simulated 3D single-cell model shows a notably superior uniformity in both current and species' concentration distribution within the streamlined design compared to the square and rectangular shapes. Experimental analysis conducted on 3D-printed flow frames demonstrated 2 % enhanced energy …


Clinical And Functional Studies Of Mtor Variants In Smith-Kingsmore Syndrome Reveal Deficits Of Circadian Rhythm And Sleep-Wake Behavior, Andrew C Liu, Yang Shen, Carolyn R Serbinski, Hongzhi He, Destino Roman, Mehari Endale, Lindsey Aschbacher-Smith, Katherine A King, Jorge L Granadillo, Isabel López, Darcy A Krueger, Thomas J Dye, David F Smith, John B Hogenesch, Carlos E Prada Oct 2024

Clinical And Functional Studies Of Mtor Variants In Smith-Kingsmore Syndrome Reveal Deficits Of Circadian Rhythm And Sleep-Wake Behavior, Andrew C Liu, Yang Shen, Carolyn R Serbinski, Hongzhi He, Destino Roman, Mehari Endale, Lindsey Aschbacher-Smith, Katherine A King, Jorge L Granadillo, Isabel López, Darcy A Krueger, Thomas J Dye, David F Smith, John B Hogenesch, Carlos E Prada

2020-Current year OA Pubs

Heterozygous de novo or inherited gain-of-function mutations in the MTOR gene cause Smith-Kingsmore syndrome (SKS). SKS is a rare autosomal dominant condition, and individuals with SKS display macrocephaly/megalencephaly, developmental delay, intellectual disability, and seizures. A few dozen individuals are reported in the literature. Here, we report a cohort of 28 individuals with SKS that represent nine MTOR pathogenic variants. We conducted a detailed natural history study and found pathophysiological deficits among individuals with SKS in addition to the common neurodevelopmental symptoms. These symptoms include sleep-wake disturbance, hyperphagia, and hyperactivity, indicative of homeostatic imbalance. To characterize these variants, we developed cell …


Larp1 Haploinsufficiency Is Associated With An Autosomal Dominant Neurodevelopmental Disorder, James Chettle, Raymond J Louie, Olivia Larner, Robert Best, Kevin Chen, Josephine Morris, Zinaida Dedeic, Anna Childers, R Curtis Rogers, Barbara R Dupont, Cindy Skinner, Sébastien Küry, Kevin Uguen, Marc Planes, Danielle Monteil, Megan Li, Aviva Eliyahu, Lior Greenbaum, Nofar Mor, Thomas Besnard, Bertrand Isidor, Benjamin Cogné, Alyssa Blesson, Anne Comi, Ingrid M Wentzensen, Blake Vuocolo, Seema R Lalani, Roberta Sierra, Lori Berry, Kent Carter, Stephan J Sanders, Sarah P Blagden Oct 2024

Larp1 Haploinsufficiency Is Associated With An Autosomal Dominant Neurodevelopmental Disorder, James Chettle, Raymond J Louie, Olivia Larner, Robert Best, Kevin Chen, Josephine Morris, Zinaida Dedeic, Anna Childers, R Curtis Rogers, Barbara R Dupont, Cindy Skinner, Sébastien Küry, Kevin Uguen, Marc Planes, Danielle Monteil, Megan Li, Aviva Eliyahu, Lior Greenbaum, Nofar Mor, Thomas Besnard, Bertrand Isidor, Benjamin Cogné, Alyssa Blesson, Anne Comi, Ingrid M Wentzensen, Blake Vuocolo, Seema R Lalani, Roberta Sierra, Lori Berry, Kent Carter, Stephan J Sanders, Sarah P Blagden

Faculty, Staff and Students Publications

Autism spectrum disorder (ASD) is a neurodevelopmental disorder (NDD) that affects approximately 4% of males and 1% of females in the United States. While causes of ASD are multi-factorial, single rare genetic variants contribute to around 20% of cases. Here, we report a case series of seven unrelated probands (6 males, 1 female) with ASD or another variable NDD phenotype attributed to de novo heterozygous loss of function or missense variants in the gene LARP1 (La ribonucleoprotein 1). LARP1 encodes an RNA-binding protein that post-transcriptionally regulates the stability and translation of thousands of mRNAs, including those regulating cellular metabolism and …