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2022

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The Shifting Nature Of Empire: Vandalia And Other Plans For New Colonies West Of The Allegheny Mountains Before The American Revolution, Michael Davis Jan 2022

The Shifting Nature Of Empire: Vandalia And Other Plans For New Colonies West Of The Allegheny Mountains Before The American Revolution, Michael Davis

All ETDs from UAB

North American westward expansion following the end of the Seven Years’ War is a subject that has been dealt with by many historians from both sides of the Atlantic. The American push west of the Allegheny Mountains facilitated political divisions and divergent visions that would advance the push for independence from the British Empire and contribute to the creation of a new authority and a new kind of empire. This paper focuses on one aspect of this significant area of late-colonial and early republican American history. New western colonial schemes emerged from the ashes of the global war with France …


2021 Town Report Lempster, New Hampshire Incorporated 1767., Lempster Town Representatives Jan 2022

2021 Town Report Lempster, New Hampshire Incorporated 1767., Lempster Town Representatives

Lempster, NH Annual Reports

This is an annual report containing vital statistics for a town/city in the state of New Hampshire.


Development Of A Multiplex Qpcr For The Quantification Of Three Protozoan Parasites Of The Eastern Oyster Crassostrea Virginica, Jessica L. Piesz, Abigail K. Scro, Ryan Corbett, Kathryn Markey Lundgren, Roxanna Smolowitz, Marta Gomez-Chiarri Jan 2022

Development Of A Multiplex Qpcr For The Quantification Of Three Protozoan Parasites Of The Eastern Oyster Crassostrea Virginica, Jessica L. Piesz, Abigail K. Scro, Ryan Corbett, Kathryn Markey Lundgren, Roxanna Smolowitz, Marta Gomez-Chiarri

Fisheries, Animal and Veterinary Sciences Faculty Publications

A multiplex quantitative PCR (qPCR) assay for the simultaneous detection of 3 eastern oyster Crassostrea virginica parasites, Perkinsus marinus, Haplosporidium nelsoni, and H. costale, was developed using 3 different fluorescently labeled hydrolysis probes. The primers and probe from a previously validated singleplex qPCR for P. marinus detection were combined with newly designed primers and probes specific for H. nelsoni and H. costale. The functionality of the multiplex assay was demonstrated on 2 different platforms by the linear relationship of the standard curves and similar cycle threshold (CT) values between parasites. Efficiency of the multiplex …


A Crew-Operated Data Recording System For Length-Based Stock Assessment Of Indonesia’S Deep Demersal Fisheries, Elle Wibisono, Peter Mous, Edwison Firmana, Austin T. Humphries Jan 2022

A Crew-Operated Data Recording System For Length-Based Stock Assessment Of Indonesia’S Deep Demersal Fisheries, Elle Wibisono, Peter Mous, Edwison Firmana, Austin T. Humphries

Fisheries, Animal and Veterinary Sciences Faculty Publications

Deep demersal fisheries in Indonesia yielded close to 90,000 metric tons of snapper and grouper in 2019, landed by a fleet of approximately 10,000 fishing boats. Prior to the present study, information on these multi-species, dispersed, small- to medium-scale fisheries was scarce, while reliable species-specific data on catch and effort were non-existent. This data-deficiency made stock assessments and design of harvest control rules impossible. We developed a new data collection method, the Crew Operated Data Recording System (CODRS), to collect verifiable species- and length-composition data from catches across all segments of the fleet. CODRS engaged crews of 579 fishing vessels …


Fish And Complementary Feeding Practices For Young Children: Qualitative Research Findings From Coastal Kenya, Mary Kate Cartmill, Ivy Blackmore, Catherine Sarange, Ruth Mbeyu, Christopher Cheupe, Joaquim Cheupe, Elizabeth Kamau-Mbuthia, Lora Iannotti, Andrew Wamukota, Austin T. Humphries, Carolyn Lesorogol Jan 2022

Fish And Complementary Feeding Practices For Young Children: Qualitative Research Findings From Coastal Kenya, Mary Kate Cartmill, Ivy Blackmore, Catherine Sarange, Ruth Mbeyu, Christopher Cheupe, Joaquim Cheupe, Elizabeth Kamau-Mbuthia, Lora Iannotti, Andrew Wamukota, Austin T. Humphries, Carolyn Lesorogol

Fisheries, Animal and Veterinary Sciences Faculty Publications

This study examines barriers to fish consumption during the complementary feeding period in two coastal counties of Kenya with high rates of child malnutrition. Study findings indicate that young child fish consumption is impacted by factors related to accessibility, food preferences, and caregiver’s knowledge and beliefs about fish during the complementary feeding period. These factors are influenced by prominent community figures such as elder women and health workers, whose own beliefs and understandings are impacted by underlying cultural norms, potentially limiting fish consumption. To our knowledge, this is the first study conducted in the coastal region of Kenya to focus …


Diversity And Distribution Of Symbiodiniaceae Detected On Coral Reefs Of Lombok, Indonesia Using Environmental Dna Metabarcoding, Arief Pratomo, Dietriech G. Bengen, Neviaty P. Zamani, Christopher E. Lane, Austin T. Humphries, Erin Borbee, Beginer Subhan, Hawis Madduppa Jan 2022

Diversity And Distribution Of Symbiodiniaceae Detected On Coral Reefs Of Lombok, Indonesia Using Environmental Dna Metabarcoding, Arief Pratomo, Dietriech G. Bengen, Neviaty P. Zamani, Christopher E. Lane, Austin T. Humphries, Erin Borbee, Beginer Subhan, Hawis Madduppa

Fisheries, Animal and Veterinary Sciences Faculty Publications

Background

Dinoflagellates of family Symbiodiniaceae are important to coral reef ecosystems because of their contribution to coral health and growth; however, only a few studies have investigated the function and distribution of Symbiodiniaceae in Indonesia. Understanding the distribution of different kinds of Symbiodiniaceae can improve forecasting of future responses of various coral reef systems to climate change. This study aimed to determine the diversity of Symbiodiniaceae around Lombok using environmental DNA (eDNA).

Methods

Seawater and sediment samples were collected from 18 locations and filtered to obtain fractions of 0.4–12 and >12 µm. After extraction, molecular barcoding polymerase chain reaction was …


Nutrient Capture And Sustainable Yield Maximized By A Gear Modification In Artisanal Fishing Traps, Bryan P. Galligan, Timothy R. Mcclanahan, Austin T. Humphries Jan 2022

Nutrient Capture And Sustainable Yield Maximized By A Gear Modification In Artisanal Fishing Traps, Bryan P. Galligan, Timothy R. Mcclanahan, Austin T. Humphries

Fisheries, Animal and Veterinary Sciences Faculty Publications

Coral reef artisanal fisheries are an important source of nutrition and economic wellbeing for coastal communities, but their management is subject to conflicts and tradeoffs between short-term food security benefits and long-term ecological function. One potential tradeoff is between nutrient capture and fish yields, where targeting small, nutrient-dense species may be more valuable for food security than maximizing fish yields, which is more closely aligned with supporting biodiversity and ecological function. We explored these potential tradeoffs by comparing two similar gears: traditional African basket traps and traps modified with an escape gap. Traps without escape gaps captured a higher frequency …


Organic Farmers Face Persistent Barriers To Adopting Diversification Practices In California’S Central Coast, Liz Carlisle, Kenzo Esquivel, Patrick Baur, Nina F. Ichikawa, Elissa M. Olimpi, Joanna Ory, Hannah Waterhouse, Alastair Iles, Daniel S. Karp, Claire Kremen, Timothy M. Bowles Jan 2022

Organic Farmers Face Persistent Barriers To Adopting Diversification Practices In California’S Central Coast, Liz Carlisle, Kenzo Esquivel, Patrick Baur, Nina F. Ichikawa, Elissa M. Olimpi, Joanna Ory, Hannah Waterhouse, Alastair Iles, Daniel S. Karp, Claire Kremen, Timothy M. Bowles

Fisheries, Animal and Veterinary Sciences Faculty Publications

In the face of myriad environmental challenges associated with industrial agriculture, some farmers and researchers have looked to diversified farming systems as a promising alternative. Despite well-documented ecological benefits, diversification practices remain rare in many regions of the U.S, even amongst organic farmers. Our study focuses on organic farmers in the Central Coast region of California, an area that has played a crucial role in the rise of organic agriculture over the last several decades. Through 20 interviews with farmers who all grow lettuce and 8 interviews with technical assistance providers, we investigate the persistent barriers that growers in this …


Tailoring Ex Machina: Perspectives On Personalized Law, Gregory Klass Jan 2022

Tailoring Ex Machina: Perspectives On Personalized Law, Gregory Klass

Georgetown Law Faculty Publications and Other Works

In their book Personalized Law: Different Rules for Different People, Omri Ben-Shahar and Ariel Porat propose a radical approach to lawmaking: using of big data and artificial intelligence to tailor legal dictates to the individual histories and characteristics of persons they affect. This essay critically discusses that proposal.

It first examines normative differences among the Ben-Shahar and Porat’s proposals for personalizing laws. There are important differences, for example, between using big data and artificial intelligence to tailor how a private legal power can be exercised to the capacities and interests of the power-holder and imposing different speed limits on …


Interviews With Farmers Suggest Negative Direct And Indirect Effects Of The Invasive Green Iguana (Iguana Iguana) On Agriculture In Puerto Rico, Christina N. De Jesús Villanueva, Gabriela P. Massanet Prado, William Gould, Carlos G. Garcia-Quijano Jan 2022

Interviews With Farmers Suggest Negative Direct And Indirect Effects Of The Invasive Green Iguana (Iguana Iguana) On Agriculture In Puerto Rico, Christina N. De Jesús Villanueva, Gabriela P. Massanet Prado, William Gould, Carlos G. Garcia-Quijano

Sociology and Anthropology Faculty Publications

Agricultural communities and crop production are negatively impacted by invasive species, with the effects of pathogenic fungi, parasitic insects and weedy plants being well studied. Mammals and birds are also recognized as impacting crops, but reptiles, such as non-native green iguanas (Iguana iguana), are typically not considered agricultural pests. Research on non-native green iguanas has largely focused on the lizard’s interactions with native species with little attention given to its impact in the agricultural landscape. We conducted semi-structured interviews with farmers from 20 farms in Puerto Rico to explore the effect of the invasive green iguana on the production of …


Dentin Microhardness And Porosity Of Wistar Rats Teeth Following Herbal-Based Devitalizing Agent Application, Maria Tanumiharja, Mustakim, Aries C. Trilaksana, Lukman Muslimin Jan 2022

Dentin Microhardness And Porosity Of Wistar Rats Teeth Following Herbal-Based Devitalizing Agent Application, Maria Tanumiharja, Mustakim, Aries C. Trilaksana, Lukman Muslimin

Journal of Dentomaxillofacial Science

No abstract provided.


Voices From Below—Africa’S Contribution To The Development Of The Norm Of Corporate Responsibility To Respect Human Rights, Akinwumi Olawuyi Ogunranti Jan 2022

Voices From Below—Africa’S Contribution To The Development Of The Norm Of Corporate Responsibility To Respect Human Rights, Akinwumi Olawuyi Ogunranti

PhD Dissertations

The long conversations about corporate responsibility predominantly take place in forums and conferences in the Global North. Yet, the majority of the human rights abuses and their impacts are felt by peasants, farmers, children, and women in local communities in the Global South who do not have a voice in the institutionalized governance systems that animate global affairs. This thesis answers the question of how norms and human rights institutions in Africa can influence the corporate responsibility to respect (CR2R) norm as embedded in pillar II of the United Nations Guiding Principles on Business and Human Rights. Through the theory …


Reconstruction Of Sparse Recurrent Connectivity And Inputs From The Nonlinear Dynamics Of Neuronal Networks, Victor J. Barranca Jan 2022

Reconstruction Of Sparse Recurrent Connectivity And Inputs From The Nonlinear Dynamics Of Neuronal Networks, Victor J. Barranca

Mathematics & Statistics Faculty Works

Reconstructing the recurrent structural connectivity of neuronal networks is a challenge crucial to address in characterizing neuronal computations. While directly measuring the detailed connectivity structure is generally prohibitive for large networks, we develop a novel framework for reverse-engineering large-scale recurrent network connectivity matrices from neuronal dynamics by utilizing the widespread sparsity of neuronal connections. We derive a linear input-output mapping that underlies the irregular dynamics of a model network composed of both excitatory and inhibitory integrate-and-fire neurons with pulse coupling, thereby relating network inputs to evoked neuronal activity. Using this embedded mapping and experimentally feasible measurements of the firing rate …


Measuring The Effects Of System Conditions On U.S. Elections Through Simulation, Nicholas D. Bernardo Jr. Jan 2022

Measuring The Effects Of System Conditions On U.S. Elections Through Simulation, Nicholas D. Bernardo Jr.

Open Access Dissertations

Elections are fundamental to the success of democracy in the United States (U.S.). For decades, researchers from various domains have investigated voting in the U.S. with many aims. One focus of investigation has been the act of in-person voting, sparked by instances of voter disenfranchisement and severe delays at polling locations. Despite many efforts to improve voting processes, some voters continue to face multi-hour long waits to cast a ballot. This research builds a robust simulation framework that is applied iteratively to assess several system conditions to quantify their exacerbation of voting delays. Once quantified, simulation results are analyzed through …


Probiotics For Eastern Oyster Hatcheries: Commercial Formulations And Effect On Microbial Communities, Evelyn Takyi Jan 2022

Probiotics For Eastern Oyster Hatcheries: Commercial Formulations And Effect On Microbial Communities, Evelyn Takyi

Open Access Dissertations

In the United States of America, oyster production is an important component of the seafood industry in many coastal communities. Oysters provide ecological, economic, and cultural services. Several hatcheries providing eastern oyster, C. virginica, seed to oyster farms face significant losses owing to Vibrio spp. infections causing massive larval mortalities. Probiotics have been proposed as a potential preventive measure to limit the impact of bacterial diseases in shellfish hatcheries. The probiotic bacterium Phaeobacter inhibens S4 has been shown to protect C. virginica larvae from Vibrio coralliilyticus RE22 (RE22) infection. A liquid formulation of this probiotic has been developed for …


Third- Through Fifth-Grade Males And The Reading Gap: Factors That Aid In The Reading Gap In Relation To Their Female Counterparts, Tina Alexander Jan 2022

Third- Through Fifth-Grade Males And The Reading Gap: Factors That Aid In The Reading Gap In Relation To Their Female Counterparts, Tina Alexander

Doctor of Education Dissertations

The study was designed to provide key factors that impact male reading gaps in relation to females using a quantitative approach. K-5 teachers and reading specialists were given a survey on reading and how it pertains to males and reading. The surveys consisted of the importance of reading, reading efficacy, reading avoidance, reading challenges, recognition for reading, social reasons for reading, reading curiosity, reading for grades, compliance, and competition in reading. I analyzed the perceptions of K-5 teachers and reading specialists as they relate to males and their reading gaps in relation to female students in a small school district. …


Flattening The Curve: Elements Impacting K-12 Teachers’ Technology Self-Efficacy With Distance Learning During Covid-19, Rochelle Stanley Jan 2022

Flattening The Curve: Elements Impacting K-12 Teachers’ Technology Self-Efficacy With Distance Learning During Covid-19, Rochelle Stanley

Doctor of Education Dissertations

The purpose of this research study was to examine the elements impacting K-12 teachers’ technology self-efficacy while implementing distance learning during a global crisis, specifically the COVID-19 pandemic. Through this examination, the gaps in teachers’ technology self-efficacy and learning opportunities may give teachers the assistance needed to hone skills that will enrich student learning within distance learning platforms. It will also provide insight for teacher education programs; school districts; and more specifically, teacher organizations within communities.


Shift In Education: The Impact Of Covid-19 On Face-To-Face And Virtual Learning, Donya Jones Jan 2022

Shift In Education: The Impact Of Covid-19 On Face-To-Face And Virtual Learning, Donya Jones

Doctor of Education Dissertations

This qualitative study was conducted to investigate the impact COVID-19 had on teachers’ instructional practices, technology preparedness, and social and emotional well-being. The results of this study can be used to inform school leaders, administrators, and teachers about methods to support teachers who teach during a worldwide crisis. The study was conducted utilizing a survey instrument and interviews. The survey and interviews indicated that COVID-19 affected teachers who taught virtually during the COVID-19 pandemic. The survey and interview participants identified supports that teachers needed to have in order to successfully teach virtually during a pandemic, such as technology, professional development …


Rain Garden Design For Stormwater Management In Chiang Mai, Thailand : A Research-Through-Design Study, Chulalux Wanitchayapaisit, Pongsakorn Suppakittpaisarn, Nadchawan Charoenlertthanakit, Vipavee Surinseng, Ekachai Yaipimol, Damrongsak Rinchumphu Jan 2022

Rain Garden Design For Stormwater Management In Chiang Mai, Thailand : A Research-Through-Design Study, Chulalux Wanitchayapaisit, Pongsakorn Suppakittpaisarn, Nadchawan Charoenlertthanakit, Vipavee Surinseng, Ekachai Yaipimol, Damrongsak Rinchumphu

NAKHARA (Journal of Environmental Design and Planning)

Conventional stormwater management may cause long term environmental issues. Fortunately, Water Sensitive Urban Design (WSUD) can manage stormwater more sustainably. However, the design examples of WSUD elements, such as rain gardens within the geographical and cultural context of Thailand are lacking. This study investigated the patterns of rain garden design suitable for urban areas in Chiang Mai and developed examples of rain garden design processes and prototypes in an urban context for Chiang Mai. This research used the Research by design Method (RDM), which has great potential in bridging the gap between research and application. The researchers selected the site …


“To Multiply Corn Two-Hundred-Fold”: The Alchemical Augmentation Of Wheat Seeds In Seventeenth-Century English Husbandry, Justin Niermeier-Dohoney Jan 2022

“To Multiply Corn Two-Hundred-Fold”: The Alchemical Augmentation Of Wheat Seeds In Seventeenth-Century English Husbandry, Justin Niermeier-Dohoney

Arts and Communication Faculty Publications

Agricultural reform movements proliferated in seventeenth-century Europe. For many who sought to make farming more economically productive, the practices of chymistry offered a way to accomplish these goals. Placed in the context of the development of a “vegetable philosophy,” or a theory of generation and growth across mineralogical and botanical domains, this article examines the application of chymical techniques in the attempt to enhance wheat seeds through seed-steeping and “fructifying” experiments among seventeenth-century agricultural reformers, particularly in England. I focus on three main sources: instructional husbandry manuals describing how to create “fructifying waters” to fertilize these seeds, the writings of …


"Rusticall Chymistry": Alchemy, Saltpeter Projects, And Experimental Fertilizers In Seventeenth-Century English Agriculture", Justin Niermeier-Dohoney Jan 2022

"Rusticall Chymistry": Alchemy, Saltpeter Projects, And Experimental Fertilizers In Seventeenth-Century English Agriculture", Justin Niermeier-Dohoney

Arts and Communication Faculty Publications

As the primary ingredient in gunpowder, saltpeter was an extraordinarily important commodity in the early modern world. Historians of science and technology have long studied its military applications but have rarely focused on its uses outside of warfare. Due to its potential effectiveness as a fertilizer, saltpeter was also an integral component of experimental agricultural reform movements in the early modern period and particularly in seventeenth-century England. This became possible for several reasons: the creation of a thriving domestic saltpeter production industry in the second half of the sixteenth century; the development of vitalist alchemical theories that sought a unified …


Freedom To Morph? An Analysis Of Morphed Imagery, Child Pornography, And The First Amendment, Katie H. Jung Jan 2022

Freedom To Morph? An Analysis Of Morphed Imagery, Child Pornography, And The First Amendment, Katie H. Jung

Catholic University Journal of Law and Technology

This article examines the current law related to child pornography and how it leaves a gap for morphed imagery to flourish. The jurisprudence in this area is insufficient to keep up with the changing technology which allows children to be portrayed in morphed imagery and argues that this should not fall within First Amendment protection. The Supreme Court has made it clear that protecting children is an exceedingly important interest and that traditional child pornography falls outside of what was traditionally considered to be protected First Amendment speech. This article argues that the Circuit Split, should the Supreme Court take …


Cenchrus Ciliaris - Environmental Weed Risk Assessment 2022, Department Of Primary Industries And Regional Development, Western Australia Jan 2022

Cenchrus Ciliaris - Environmental Weed Risk Assessment 2022, Department Of Primary Industries And Regional Development, Western Australia

Environmental Weed Risk Assessments

Introducing new plants to an area may have both positive and negative effects on the environment, economy and community. To minimise the negative environmental impact of introducing new agricultural species, DPIRD conducts a risk assessment procedure based on widely accepted scientific standards. This report assesses Buffel grass (Cenchrus ciliaris). Buffel grass (Cenchrus ciliaris) is a perennial grass forming tufted tussocks to 1m which is native to large parts of Africa, Arabian Peninsula, western Asia, Middle East and the Indian sub-continent (Humphreys 1967). Seedheads form a dense, hairy cylindrical spike, with straw-coloured burrs or fascicles comprising 1-4 spikelets which are light …


Vigna Unguiculata - Environmental Weed Risk Assessment 2022, Department Of Primary Industries And Regional Development, Western Australia Jan 2022

Vigna Unguiculata - Environmental Weed Risk Assessment 2022, Department Of Primary Industries And Regional Development, Western Australia

Environmental Weed Risk Assessments

Introducing new plants to an area may have both positive and negative effects on the environment, economy and community. To minimise the negative environmental impact of introducing new agricultural species, DPIRD conducts a risk assessment procedure based on widely accepted scientific standards. This report assesses Vigna unguiculata (cowpea). Vigna unguiculata (cowpea) originates from West Africa (Cook et al. 2020) with an additional centre of genetic diversity in Southern India (Krishna 2014). Ba et al. (2004) found that domesticated cowpea showed a high genetic variability. Combined with high morphological diversity this has resulted in a complex taxonomy which has been reviewed …


Growing South Dakota (Fall 2021 / Winter 2022), College Of Agriculture, Food And Environmental Sciences Jan 2022

Growing South Dakota (Fall 2021 / Winter 2022), College Of Agriculture, Food And Environmental Sciences

Growing South Dakota (Publication of the College of Agriculture, Food and Environmental Sciences)

[Page] 3 SDSU Launches New Professional Program in Veterinary Medicine
[Page] 7 The 6th Generation
[Page] 9 First-Gen Proud
[Page] 11 Student Success
[Page] 21 Alumni News
[Page] 27 CAFES News and Updates
[Page] 45 Jackrabbits Now and Then: A Current Student and Alumni Q&A


Drought Tolerant Landscaping Trends In Claremont, California, Serena Myjer Jan 2022

Drought Tolerant Landscaping Trends In Claremont, California, Serena Myjer

CMC Senior Theses

The environmental impacts of turf grass lawns are particularly important to consider in California, because of its unique Mediterranean climate and ongoing problems with chronic drought. While California is ideal for agriculture, recreation, and year-round living, the occurrence of drought is natural and not uncommon, evident in historical human and paleoclimate records. Drought impacts humans and wildlife including water scarcity, crop failure, water quality, reduced streamflow, and wetland availability. Diverting water from these critical sources for growing turf grass lawns is inappropriate and harmful. This project is the first analysis of landscaping patterns, trends, and changes in Claremont, California using …


Data, Knowledge Practices, And Naturecultural Worlds: Vehicle Emissions In The Anthropocene, Lindsay Poirier Jan 2022

Data, Knowledge Practices, And Naturecultural Worlds: Vehicle Emissions In The Anthropocene, Lindsay Poirier

Statistical and Data Sciences: Faculty Books

This chapter details the various techno-cultural assemblages giving rise to data collected to model and measure anthropogenic worlds, arguing that data-based technologies both represent and co-produce the Anthropocene. It begins with a review of scholarship emerging at the intersection of science and technology studies and information studies that advances understanding of data infrastructure and knowledge practices, and their role within the anthropogenic assemblages that shape history. Drawing on a case study describing how vehicle emissions are measured and regulated in the US, I examine the materialities and mutability of technologies designed to produce data about air quality, along with the …


H. M. Naqvi’S Home Boy As A Response To Post-9/11 Islamophobia And As Implicit Critique Of Mohsin Hamid’S The Reluctant Fundamentalist, Ambreen Hai Jan 2022

H. M. Naqvi’S Home Boy As A Response To Post-9/11 Islamophobia And As Implicit Critique Of Mohsin Hamid’S The Reluctant Fundamentalist, Ambreen Hai

English Language and Literature: Faculty Publications

No abstract provided.


Hope, Sound, And The Materiality Of Print In Frances Ellen Watkins Harper's Periodical Poems, Magdalena Zapędowska Jan 2022

Hope, Sound, And The Materiality Of Print In Frances Ellen Watkins Harper's Periodical Poems, Magdalena Zapędowska

English Language and Literature: Faculty Publications

No abstract provided.


A Novel Variant Of Rbck1 Gene Causes Mild Polyglucosan Myopathy, Talal Alanzi, Fahad Al Harbi, Abdulaziz Alghamdi, Sarar Mohamed Jan 2022

A Novel Variant Of Rbck1 Gene Causes Mild Polyglucosan Myopathy, Talal Alanzi, Fahad Al Harbi, Abdulaziz Alghamdi, Sarar Mohamed

Neurosciences

Homozygous or compound heterozygous pathogenic variants of the RBCK1 gene can result in a systemic disorder characterized by the accumulation of complex carbohydrate molecules, namely polyglucosan bodies in the muscular tissues. The role of this gene in the pathophysiology of the disorder at the molecular level remains unclear. Being a very rare disorder, the medical knowledge is based on just a few reported cases. Here we report a 7-year-old girl who presented with exercise intolerance and hepatosplenomegaly. Her liver profile was constantly raised. The genetic investigation has revealed a variant of the RBCK1 gene of unknown significance, which has later …