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Structural Variant Allelic Heterogeneity In Mecp2 Duplication Syndrome Provides Insight Into Clinical Severity And Variability Of Disease Expression, Davut Pehlivan, Jesse D Bengtsson, Sameer S Bajikar, Christopher M Grochowski, Ming Yin Lun, Mira Gandhi, Angad Jolly, Alexander J Trostle, Holly K Harris, Bernhard Suter, Sukru Aras, Melissa B Ramocki, Haowei Du, Michele G Mehaffey, Kyunghee Park, Ellen Wilkey, Cemal Karakas, Jesper J Eisfeldt, Maria Pettersson, Lynn Liu, Marwan S Shinawi, Virginia E Kimonis, Wojciech Wiszniewski, Kyle Mckenzie, Timo Roser, Angela M Vianna-Morgante, Alberto S Cornier, Ahmed Abdelmoity, James P Hwang, Shalini N Jhangiani, Donna M Muzny, Tadahiro Mitani, Kazuhiro Muramatsu, Shin Nabatame, Daniel G Glaze, Jawid M Fatih, Richard A Gibbs, Zhandong Liu, Anna Lindstrand, Fritz J Sedlazeck, James R Lupski, Huda Y Zoghbi, Claudia M B Carvalho

Faculty, Staff and Students Publications

BACKGROUND: MECP2 Duplication Syndrome, also known as X-linked intellectual developmental disorder Lubs type (MRXSL; MIM: 300260), is a neurodevelopmental disorder caused by copy number gains spanning MECP2. Despite varying genomic rearrangement structures, including duplications and triplications, and a wide range of duplication sizes, no clear correlation exists between DNA rearrangement and clinical features. We had previously demonstrated that up to 38% of MRXSL families are characterized by complex genomic rearrangements (CGRs) of intermediate complexity (2 ≤ copy number variant breakpoints < 5), yet the impact of these genomic structures on regulation of gene expression and phenotypic manifestations have not been investigated.

METHODS: To study the role of the genomic rearrangement structures on an individual's clinical phenotypic variability, we employed a comprehensive …

Medication-Induced Esophageal Injury In Cats And Dogs: A Comprehensive Review, Naowarat Suthamnatpong, Aranya Ponpornpisit

The Thai Journal of Veterinary Medicine

Medication-induced esophageal injury (MIEI) is a significant concern in veterinary medicine, affecting the health and well-being of animals undergoing various pharmaceutical treatments. If not addressed promptly, MIEI can lead to severe complications such as esophagitis, esophageal stricture, perforation, and even mortality. This review aims to provide a comprehensive examination of MIEI in veterinary medicine, covering essential aspects such as the basic structure of the esophagus, the epidemiology and etiology of MIEI, and the factors influencing susceptibility. The mechanisms of injury are discussed in detail, focusing on direct mechanical injuries, chemical injuries from medication components, and systemic effects. The review also …

Deinstitutionalizing The Mentally Retarded In Maine: The Inevitable Face-Off With Zoning, Pamela D. Albee

Maine Law Review

In July 1978, agencies and officials of the State of Maine entered into a federal consent judgment which terminated a class action lawsuit that had dragged on for three years. The consent judgment in Wuori v. Zitnay detailed a comprehensive plan designed to bring about speedy and meaningful relief to the plaintiff class: mentally retarded citizens of Maine involuntarily confined to Pineland Center, Maine's principal institution for the mentally retarded, and certain others who were conditionally released from Pineland and in community placements. The relief granted was a right to be provided the least restrictive and most normal living conditions …

Sedentary Behaviors And Physical Activity In University It Workers, Sungwon Park

Sigma Foundation for Nursing Research Grant Reports

• Aim 1. Formulate estimates of sedentary behavior (SB) and physical activity (PA) in IT workers.
• Aim 2. Explore IT worker subgroup profiles to determine which subgroups are associated with the lowest and highest SB and PA.
• Aim 3. Identify factors influencing SB and PA at multi level.
• Aim 4. Determine modifiable risk factors influencing the relationship between metabolic syndrome (MetS), SB, and PA.

The Relationship Between Periodontal Disease Of Feline And Oral Core Microbiome, Ziyao Zhou

The Thai Journal of Veterinary Medicine

The microbiome of the oral cavity is complex with the average adult harboring about 50 to 100 billion bacteria which represent about 200 predominant bacterial species. There are a large number of microbes in the oral cavity of the feline, normally beneficial to oral health and safety maintenance. However, when the balance of bacteria lost, it may occur feline stomatitis and periodontitis, which seriously endanger local oral health. Environmental implication, feeding model, age and genetic factors may be main factors affecting oral composition of microbiome. Filifactor alocis, Porphyromonas gingivals, Tannerella forsythia and their interactions are main pathogen that …

2024 December 17 - Medical Student Education Committee Minutes, Medical Student Education Committee, East Tennessee State University

Medical Student Education Committee Minutes

No abstract provided.

Examining Teachers’ Experiences In Fostering Social-Emotional Learning After Returning To In-Person Instruction In The Midst Of The Covid-19 Pandemic, Rosario Grajeda

Dissertations

Purpose: This qualitative phenomenological study examines how middle school teachers in Riverside County, California, support the social-emotional learning (SEL) needs of students as students returned to in-person instruction after the COVID-19 pandemic. Methodology: This qualitative study explores how Riverside County middle school teachers addressed students' social and emotional needs upon returning to in-person learning after COVID-19. Twelve teachers from local public middle schools (grades 6-8) participated in semi-structured interviews, answering ten questions. Data from interviews and artifacts were transcribed and analyzed using NVIVO software to identify recurring themes related to the study questions. Findings: The shared experiences of participants and …

The Influence Of Heat Therapy On Redox Signaling In Skeletal Muscle, Kimberly Miriam Richard

Theses and Dissertations

Reactive oxygen species (ROS) have been identified as crucial signaling molecules in skeletal muscle adaptations to exercise and signal for protective pathways within the myofiber. Pathological heat stress studies in animals demonstrate the ability of heat to increase ROS production in skeletal muscle. Limited data on the influence of therapeutic heat on ROS production and redox signaling in human skeletal muscle exists in the literature. The purpose of this study was to assess ROS production and redox signaling in human skeletal muscle following an acute, therapeutic bout of heat treatment. We hypothesized that heat would create an oxidized environment within …

Creating A Digital House Of Knowledge: Ensuring The Continuation And Integrity Of Indigenous Knowledge Transfers In The Digital Era, Jacquelyn C. Cordova

Indigenous Studies

Traditional Indigenous knowledge transfer systems have contributed to the sustainability of highly advanced Indigenous societies since time immemorial. These systems have been purposefully targeted since European arrival to the Americas in the late 1400s and early 1500s, consequently creating barriers for Indigenous Peoples as they strive to conduct their traditional knowledge transfer processes within their communities. These barriers, paired with the continual rise and use of global technologies, have created circumstances where many Native Elders and Knowledge Keepers experience difficulty reaching their youth and community members to ensure the successful transfer of Indigenous data and knowledge to current and future …

Investigation And Computational Analysis Of The Iqd Gene Family In Common Bean (Phaseolus Vulgaris L.): Expression Profiling Under Salt Stress, Tarik Kirlioğlu, Aybüke Okay, Emi̇ne Sümer Aras, İlker Büyük

Turkish Journal of Botany

Common bean is one of the most nutritionally important legumes because of its high-quality protein content. While its genome has been widely studied however, the IQD gene family has not been extensively investigated in common bean to date. The IQD proteins (IQ-67 domain), a type of calmodulin-binding protein, are involved in plant growth and development, as well as the plant's response to environmental stressors. In this study, thirty-six PvIQD genes were discovered and their proteins were found to be classified into four groups according to the phylogenetic tree. The proteins which are encoded by PvIQD genes with similar exon-intron pattern …

Genome-Wide Identification And Characterization Of The Lea Gene Family In Common Bean And The Role Of The Dehydrin Gene Pvhdn3 In Enhancing Salt And Drought Tolerance In Transgenic Tobacco Plant., Gökhan Gökdemi̇r, Zafer Seçgin, Karam Mostafa, Mohamed Farah Abdulla, Musa Kavas

Turkish Journal of Botany

Global climate change exposes crops to numerous abiotic and biotic stress factors, significantly threatening their growth, development, and overall productivity. Among the various abiotic stresses, salt and drought are the most detrimental, having a severe impact on yield stability. Late Embryogenesis Abundant proteins (LEA) represent a broad and varied class of polypeptides that accumulate in response to cellular dehydration across diverse organisms. Nonetheless, there has been a scarcity of studies on this protein family in common beans prior to this investigation. In this study, we identified 69 members of the LEA gene family in common bean, characterized by conserved LEA …

Stable Isotope Analyses Of Eye Lenses And Stomach-Content Analysis Reveal Ontogenetic Variation In Arctic Whitefish Trophic Dynamics, Jonah A. Bacon

Fisheries

Determining the ontogenetic trophic ecology of sympatric, morphologically similar fishes is critical for increasing our understanding of life history. We combined bulk and amino acid compound-specific stable isotope analysis of eye lenses with stomach-content analysis to examine ontogenetic trophic dynamics of four amphidromous whitefishes (Arctic Cisco Coregonus autumnalis, Least Cisco C. sardinella, Broad Whitefish C. nasus, Humpback Whitefish C. pidschian) from the central Beaufort Sea, Alaska. Compound-specific stable nitrogen isotope results showed slight increases in trophic position across ontogeny for each species and indicated the feasibility of this method for comparing the trophic ontogenetic development of closely related, mobile predator …

Innovations In Plant Genome Editing And Biotechnology: Addressing Global Agricultural Challenges, Bayram Ali̇ Yerli̇kaya, Karam Mostafa, Abdullah Aydin, Seher Yerli̇kaya, Momna Mehmood, Ni̇sa Nur Yilmaz, Kubi̇lay Yildirim, Musa Kavas

Turkish Journal of Botany

Developments in genome editing and plant biotechnology in recent years, especially CRISPR-Cas9 and RNA interference (RNAi) technologies, offer essential tools for solving global agricultural problems that are worsened by climate change and the increasing food demand caused by the rising world population. This review focuses on the urgent need to feed a growing global population. It explores how key biotechnological tools can enhance crop resilience and nutritional quality amid climate variability and extreme weather. The applicability of CRISPR-Cas technologies in the development of climate-friendly, more nutritious, and higher-yielding crops has opened a biotechnological avenue for the development of both transgenic …

Identification Of Genes Associated With Zinc And Copper Concentrations In Walnut (Juglans Regia L.) By Gwas Analysis, Berfi̇n Nazlican Kaman, Bülent Yağmur, Erdal Orman, Muhammed Bahatti̇n Tanyolaç, Duygu Ateş

Turkish Journal of Botany

154 walnut genotypes from various geographic regions were analyzed in the study. Micronutrient concentrations of zinc (Zn) ranged from 1.61 to 8.98 mg/100 g, and the concentrations of copper (Cu) varied between 0.12 and 0.38 mg/100 g. 16,473 SNPs were generated using Diversity Array Technology (DArT) for genome-wide association (GWAS) studies. The Mixed Linear Model (MLM) utilizing the Q + K model revealed seven associated markers for the element Zn in 2021 and four in 2022. The MLM (Q + K) model indicated two associated markers for the element Cu in 2021 and three in 2022. The markers found in …

Cultivation Protocols For The Red Seaweeds, Devaleraea Mollis And Palmaria Hecatensis From Alaska, Muriel Dittrich

Marine Biology

Species diversification is crucial for the long-term viability, competitiveness, and sustainability of the seaweed farming industry in the United States. This study investigated the effects of temperature (4, 8 and 12 °C), photoperiod (8L:16D, 12L:12D and 16L:8D), and irradiance (20, 40, 100 ± 10 μmol photons m-2 s-1) on the specific growth rate (SGR) of Devaleraea mollis and Palmaria hecatensis from Alaska. Outputs were used to adjust indoor cultivation protocols for D. mollis and develop the first protocols for Palmaria hecatensis. This study also explored the use of two relatively low-cost commercial nutrient products (F/2 and Jack's Special 25-5-15) as …

Exploring The Population Structure And Genetic Diversity In Apple Germplasm Using Ipbs-Retrotransposon Markers, Aigul Madenova, Angsagan Kuan, Amjad Ali, Muhammad Azhar Nadeem, Muhammad Tanveer Altaf, Balnur Kabylbekova, Dinara Kaldybaeva, Ti̇mur Turdi̇yev, Faheem Shahzad Baloch

Turkish Journal of Botany

The apple (Malus domestica [Suckow] Borkh) is economically and culturally significant worldwide, thriving in temperate regions. This study examined genetic variations among 52 apple accessions from three research centers in Kazakhstan using the iPBS-retrotransposons marker system. Out of 35 screened markers, 12 highly polymorphic markers were selected for PCR amplification, resulting in 280 bands, 279 of which were polymorphic, yielding a 99.64% polymorphism rate. Genetic diversity indices showed substantial variation: effective number of alleles (ne=1.655), Shannon's information index (I=0.373), gene diversity (h=0.549), and an average genetic distance of 1.2. The analysis of molecular variance (AMOVA) indicated that 98.80% of the …

Guidelines For Returning To Dance Following Concussion: Adaptations From Sport Concussion Literature, Sheyi Ojofeitimi, Lauren Mcintyre, Elizabeth Barchi, Sarah S. Rae, Brittney Winnitoy, Jeffrey A. Russell

Department of Family & Community Medicine Faculty Papers

Sport concussion receives substantial attention as a public health concern. Conversely, performing artists, including dancers, sustain concussions, but these aesthetic athletes do not receive the same level of consideration nor care for this injury as that offered to traditional athletes. The concussion literature pertaining to dance is sparse, and, to our knowledge, no recommendations exist for the crucial aspect of care related to returning to dance following a concussion. The purpose of this article is to assimilate the current knowledge about post-concussion return to activity management in sport—the closest analog of the physical demands required in dance—as a means to …

Pathways From Socioeconomic Factors To Major Cardiovascular Events Among Postmenopausal Veteran And Nonveteran Women: Findings From The Women's Health Initiative, Hind A Beydoun, May A Beydoun, Rebecca L Kinney, Simin Liu, Rona Yu, Matthew Allison, Robert B Wallace, Qian Xiao, Longjian Liu, Philippe Gradidge, Su Yon Jung, Hilary A Tindle, Shawna Follis, Robert Brunner, Jack Tsai

Faculty, Staff and Student Publications

BACKGROUND: Cardiovascular disease (CVD) remains a leading cause of death for women in the United States, with veterans being at potentially higher risk than their nonveteran counterparts due to accelerated aging and distinct biopsychosocial mechanisms. We examined pathways between selected indicators of socioeconomic status (SES) such as education, occupation, household income, and neighborhood SES and major CVD events through lifestyle and health characteristics among veteran and nonveteran postmenopausal women.

METHODS AND RESULTS: A total of 121 286 study-eligible WHI (Women's Health Initiative) participants (3091 veterans and 118 195 nonveterans) were prospectively followed for an average of 17 years, during which …

Selective Indel Marker Identification Across The Peanut (Arachis Hypogaea L.) Genome Using Ddradseq, Moin Qureshi, Bi̇rgül Guden, Hi̇lal Şule Tosun, Mojtaba Kordrostami, Sunil Shiwaji Gangurde, Bülent Uzun, Engi̇n Yol

Turkish Journal of Botany

The advent of next-generation sequencing technologies, mainly double digest restriction site-associated DNA sequencing (ddRADSeq), has significantly advanced the development of molecular markers for crop genetics. This study used ddRADSeq to identify and develop insertion-deletion (InDel) markers in 25 peanut genotypes from diverse geographic regions. The bioinformatic analysis unveiled 62728 InDels across the peanut genome, predominantly between 1-5 bp, which constituted 96% of the total, while InDels of ≥ 6 bp accounted for 3.96%. We focused on 1013 InDels of at least 10 bp for further analysis, representing 1.61% of the total reads, with a distribution of 832 insertions and 181 …

Influence Of Demographics, Health, And Self-Objectification On Body Acceptance And Body Appreciation In Older Adults, Heather Russell

Walden Dissertations and Doctoral Studies

Prior research has examined the demographic, health, and activity factors influencing how young people, particularly young women, see themselves concerning body appreciation and acceptance. However, body appreciation and acceptance as perceived by older men and women have not been well-studied. The purpose of the study was to examine the extent to which gender, age, quality of life assessment of physical and mental health, physical activity, and self-objectification influence body acceptance by others and body appreciation in adults ages 55-75. Self-objectification theory (SOT) was the framework used to examine the influence of two aspects of self-objectification (lack of autonomy and invisibility) …

The Lived Experiences Of Poverty Among Particularly Vulnerable Tribal Groups In A Rights-Based Anti-Poverty Programme In Jharkhand India, Monimala Sengupta

Lingnan Theses (MPhil & PhD)

This research explores poverty and social exclusion among Primitive Tribal Groups (PVTGs) in India using T. H. Marshall's concept of social citizenship. With evidence showing a disproportionate burden of poverty in the Global South, indigenous groups are even overrepresented among the poor. India, home to one of the largest Indigenous populations, accounts for 70% of South Asia's impoverished, but the specific nature of poverty within these communities remain poorly understood.

Over the past two decades, India's national response to poverty has shifted towards rights-based, inclusive policies targeting marginalised communities such as Dalits, Scheduled Castes, and Scheduled Tribes, historically subjected to …

Phytoplankton As A Bioindicator For Evaluation Of The Irrigation Water Quality Near A Metal-Coating Factory, Mimatun Nasihah, Ardyati Ardyati, Dian Siswanto, Catur Retnaningdyah

Makara Journal of Science

The irrigation water quality in Plosowahyu village, Lamongan District, Indonesia, has declined because of industrial waste disposal in irrigation canals. Specifically, waste from a metal-coating factory considerably threatens the aquatic ecosystem. To assess the impact, we evaluated water quality on the basis of phytoplankton diversity and various phys-icochemical parameters. We collected water and phytoplankton samples from four locations in Plosowahyu village: before the wastewater treatment plant (WWTP) outlet of the metal-coating factory, at this outlet, and from two sites in Wahyu River, with three repetitions at each site. The study measured several physicochemical parameters, including total dissolved solids (TDS), total …

Effects Of Juvenile Mass On Reproduction And Calf Survival In A Low-Density Moose Population, Sara R. Henslee

Biological Sciences

Moose (Alces alces) are a valuable big game species in Alaska and serve as a critical food source for residents. Near Nome, Alaska, the local moose population has remained at low densities for decades, and there is strong public interest in investigating the cause behind the population's failure to increase in abundance. Compared to other moose populations in Alaska, the population of moose near Nome does not appear to be nutritionally limited or close to carrying capacity. I sought to explore how juvenile mass, a widely used metric to assess moose nutritional status in Alaska, influences reproductive output and subsequent …

Assessment Of Food Allergy Management And Interactions With Campus Dining Halls Among College Students At Rochester Institute Of Technology, Meghan Taylor

Theses

Objective: This study explored college student dining experiences to identify areas for improving Dining Service allergen management. Method: A cross-sectional survey assessed specific allergies, frequency of allergic reactions, confidence and satisfaction with Dining Services, epinephrine auto-injector use, challenges, suggestions and use of dietitian services. Analyses included quantitative and qualitative methods. Results: Of 74 survey respondents, 28 were eligible, with 61% reporting two or more allergies (mean 2.4 ± 2.0). Tree nuts, peanuts, and milk were most common. Students with multiple allergies were more likely to carry epinephrine auto-injectors (p=0.015), though overall adherence was low. Concerns included cross-contact, inconsistent allergen labeling, …

The Activity And Origin Of The Chitinases In The Gut Of The Mediterranean House Gecko, Alec John

Masters Theses (Archived)

Chitin is a major component of the exoskeleton of arthropods as well as the cell wall of fungi. This amino polysaccharide polymer provides structure and protection to these organisms and represents a significant barrier to digestion of arthropod prey and fighting fungal infections. Chitinases are enzymes that break down chitin. Smaller insectivores, based upon the higher surface-to-volume ratio of their even smaller prey, ingest a large amount of chitin per unit prey item. Therefore, they represent high-likelihood opportunities to bio prospect for novel chitinases that may be effective against pathogenic fungi. Fungal infections are notoriously difficult to treat, and they …

Salmon, Stewardship, And Indigenous Livelihoods: Bridging Knowledge Systems And Reshaping Research Relationality In The Kuskokwim Region Of Southwestern Alaska, Janessa Esquible

Fisheries

This dissertation research is situated in southwestern Alaska, in the communities of Kongiganak, Quinhagak, Bethel, Aniak, and McGrath, spanning the Kuskokwim Bay and Kuskokwim River, and with Alaska Native Peoples (primarily Yup'ik and Athabascan fishing families) who have been salmon peoples and stewards of their ancestral homelands since time immemorial. This Indigenous-led project documented historical and current ways in which Yup'ik and Athabascan Peoples have served as salmon stewards, and the values and governance mechanisms pertaining to salmon stewardship. We utilized a participatory approach by involving Tribal governments, communities, and Indigenous local youth in all aspects of our research. We …

Degradation And Digestion Of Polypropylene, Polyethylene, And Styrofoam By Tenebrio Molitor L. (Coleoptera, Tenebrionoidae) Larvae, Wachju Subchan, Abdu Rohman, Jekti Prihatin, Fahriyah Ulimatus Salma, Rohima Novianti Halimah, Alifia Wardhatul Jannah, Risa Rosita

Makara Journal of Science

The increasing use of disposable plastic bags is affecting environmental problems because it requires thousands of years to degrade naturally. To overcome these problems, mealworms (larvae of Tenebrio molitor L.) become an alter-native solution. They can be considered as biodegradation agents of plastic because of the presence of symbiont bacte-ria in its gut that secretes plastic-depolymerizing enzymes. Therefore, this study aimed to compare the degradation and digestion ability of T. molitor in consuming various plastic types and thickness. Two designs have also been used: first, comparing the degradation and digestion of various plastic types, and second, comparing the degradation and …

Morphological And Molecular Identification Of Saurida Spp. (Teleostei: Synodontidae) From Saudi Arabia And Indonesia, Muhammad Browijoyo Santanumurti, Suciyono Suciyono, Mohamed Ahmed Abu El-Regal

Makara Journal of Science

Saurida is a unique fishery commodity because it is difficult to differentiate visually. They can be only effectively con-served once accurately identified. This study aimed to determine the morphology and molecular characteristics of Sau-rida spp. from Banyuwangi (Indonesia) and Jizan (Saudi Arabia). Meristic and morphometric analysis was performed for morphological identification, whereas COI gene analysis was performed for molecular identification. Morphological analysis was performed to identify Saurida in this study, such as S. tumbil (Jizan, Saudi Arabia) and S. micropectoralis (Banyuwangi, Indonesia). S. tumbil did not have dark brown spots on the lateral line and upper caudal fin, whereas S. …

Observations On The Biodegration By Solid State Fermentation Of The Giant Swamp Taro (Cyrtosperma Merkusii) Biomass By Two Endolichenic Fungi Isolates, Maria Helena, Helen Joan Lawalata, Dino Rahardiyan, Livana Dethris Rawung, Emma Mauren Moko

Makara Journal of Science

Giant swamp taro (GST/Cyrtosperma merkusii), a local North Sulawesi coastal plant, is underutilized but has high po-tential for cultivation as a paludiculture plant on rewetted peatland restorations. GST has high starch content and is currently being explored for potential use. This study explored the potential of using the biomass pulp yielded as resi-dues of the starch extraction process. Endolichenic fungi (Trichoderma reesei and Aspergillus aculeatus) isolated from local lichens, were inoculated on the GST biomass in a solid state fermentation (SSF). Findings of this study indicate that both isolates were effective in degrading the lignocellulosic biomass of GST over an …

Analysis Of Dense Metals Accumulation In Shikaripara Stone Mines, Gopinath Gorai, Nirajan Kumar Mandal

Makara Journal of Science

This study aimed to measure the amount of dangerous substances in the cultivated area of the Shikaripara stone mines in Jharkhand, India, which are well known for their stone quarrying. Sixteen soil samples were collected at varying dis-tances from the Shikaripara stone mines in the Dumka District of Jharkhand. The metals found in these samples in-clude Pb, As, Zn, Mn, Cd, Cu, Fg, and Fe. The combined amount of the elements was calculated by inductively coupled plasma mass spectrometry. Enrichment factor, accumulation index, contamination factor, pollution load index (PLI), Nemerow index, and ecological risk index (RI) were employed to assess …