Digital Commons Network^™

Novel Variants In Kat6b Spectrum Of Disorders Expand Our Knowledge Of Clinical Manifestations And Molecular Mechanisms, Megan Yabumoto, Catherine Gooch, Et Al

Open Access Publications

The phenotypic variability associated with pathogenic variants in Lysine Acetyltransferase 6B (KAT6B, a.k.a. MORF, MYST4) results in several interrelated syndromes including Say-Barber-Biesecker-Young-Simpson Syndrome and Genitopatellar Syndrome. Here we present 20 new cases representing 10 novel KAT6B variants. These patients exhibit a range of clinical phenotypes including intellectual disability, mobility and language difficulties, craniofacial dysmorphology, and skeletal anomalies. Given the range of features previously described for KAT6B-related syndromes, we have identified additional phenotypes including concern for keratoconus, sensitivity to light or noise, recurring infections, and fractures in greater numbers than previously reported. We surveyed clinicians to qualitatively assess the ways families …

X-Treme Loss Of Sequence Diversity Linked To Neo-X Chromosomes In Filarial Nematodes, John Mattick, Ramakrishna Rao, Et Al

Open Access Publications

The sequence diversity of natural and laboratory populations of Brugia pahangi and Brugia malayi was assessed with Illumina resequencing followed by mapping in order to identify single nucleotide variants and insertions/deletions. In natural and laboratory Brugia populations, there is a lack of sequence diversity on chromosome X relative to the autosomes (πX/πA = 0.2), which is lower than the expected (πX/πA = 0.75). A reduction in diversity is also observed in other filarial nematodes with neo-X chromosome fusions in the genera Onchocerca and Wuchereria, but not those without neo-X chromosome fusions in the genera Loa and Dirofilaria. In the species …

Cortical Feedback And Gating In Odor Discrimination And Generalization, Gaia Tavoni, David E. Chen Kersen, Vijay Balasubramanian

Open Access Publications

A central question in neuroscience is how context changes perception. In the olfactory system, for example, experiments show that task demands can drive divergence and convergence of cortical odor responses, likely underpinning olfactory discrimination and generalization. Here, we propose a simple statistical mechanism for this effect based on unstructured feedback from the central brain to the olfactory bulb, which represents the context associated with an odor, and sufficiently selective cortical gating of sensory inputs. Strikingly, the model predicts that both convergence and divergence of cortical odor patterns should increase when odors are initially more similar, an effect reported in recent …

Investigation Of Effect Of Modulation Frequency On High-Density Diffuse Optical Tomography Image Quality, Weihao Fan, Hamid Dehghani, Adam Eggebrecht

Open Access Publications

No abstract provided.

Cd177 Modulates The Function And Homeostasis Of Tumor-Infiltrating Regulatory T Cells, Myung-Chul Kim, Nicholas Borcherding, Kawther K. Ahmed, Andrew P. Voigt, Gaurav Pandey, Et Al

Open Access Publications

No abstract provided.

Upstaging And Survival Outcomes For Non-Muscle Invasive Bladder Cancer After Radical Cystectomy: Results From The International Robotic Cystectomy Consortium, Umar Iqbal, Eric Kim, Et Al

Open Access Publications

No abstract provided.

Applying Heidegger To Case Study Research In The Medical And Social Sciences, Patrick Whitehead

The Qualitative Report

In this article, I introduce an approach to the case-study method which is based on the work of German philosopher Martin Heidegger (1889-1976). Heidegger’s insights have been applied by philosophers and scholars to the social and health sciences, and this application has increased noticeably over the last decade. This article has been written so that non philosophers may benefit from Heidegger’s insights and apply them to their own research and practice. I begin with a description and overview of the shift in perspective that Heidegger has advocated, and how this shift has turned upside down the fields to which it …

A Need Of Further Training For Marriage And Family Therapy Students’ On Food Addiction And Related Eating Disorders, Darren D. Moore, Chichun Lin, Clinton Cooper

The Qualitative Report

The purpose of this study was to explore Marriage and Family Therapy students’ perspectives regarding food addiction and associated eating disorders, as a clinical treatment issue. In a standard addictions course housed in a Marriage and Family Therapy program approved by the Commission on Accreditation for Marriage and Family Therapy Education (COAMFTE), 20 students completed a qualitative survey where they reflected on the topic of food addiction, Binge Eating Disorder, and Bulimia Nervosa, within the context of individual, couple, and family relationships. In the study four major themes emerged, which included (1) Defining Food Addiction, (2) Perceptions of Eating …

The Rapid Assessment Of Aggregated Wastewater Samples For Genomic Surveillance Of Sars-Cov-2 On A City-Wide Scale., Eric C. Rouchka, Julia H. Chariker, Kumar Saurabh, Sabine Waigel, Wolfgang Zacharias, Mei Zhang, Daymond Talley, Ian Santisteban, Madeline Puccio, Sarah Moyer, Rochelle H. Holm, Ray A. Yeager, Kevin J. Sokoloski, Joshua Fuqua, Aruni Bhatnagar, Ted Smith

Faculty and Staff Scholarship

Throughout the course of the ongoing SARS-CoV-2 pandemic there has been a need for approaches that enable rapid monitoring of public health using an unbiased and minimally invasive means. A major way this has been accomplished is through the regular assessment of wastewater samples by qRT-PCR to detect the prevalence of viral nucleic acid with respect to time and location. Further expansion of SARS-CoV-2 wastewater monitoring efforts to include the detection of variants of interest/concern through next-generation sequencing has enhanced the understanding of the SARS-CoV-2 outbreak. In this report, we detail the results of a collaborative effort between public health …

Redbird Impact, Vol. 4, No. 2 (Fall 2021), Center For Civic Engagement

Redbird Impact

No abstract provided.

Labrad : Vol 46, Issue 4 - October 2021, Aga Khan University Hospital, Karachi

LABRAD - Departments of Pathology & Laboratory Medicine and Radiology Archives

• Role of Barcoding in a Clinical Laboratory to Reduce Pre-Analytical Errors
• Congenital Dyserythropoietic Anemia: The Morphological Diagnosis
• Digital Imaging in Hematology: A New Beginning
• Metabolomics: Identification of Fatty Acid Oxidation (FAO) Disorders
• Next-Generation Sequencing for HLA Genotyping
• Urine Metabolomics to identify Organic Academia
• Next-Generation Sequencing (NGS) of Solid Tumor
• Importance of using Genomic Tool in Microbial Identification
• Radiology Practice in 21st Century: Role of Artificial Intelligence
• Case Quiz
• Best of the Recent Past
• Polaroid

Discontinuity Between Religion, Law, And Society Through Animal Treatment In Morocco, Michael Altman

Independent Study Project (ISP) Collection

Animal treatment is a topic which is covered by many facets of what helps create the guiding principles for humans, yet all in different ways; there is some overlap, and there is some distinction. From my three months of study in Rabat, Morocco, seeing how each person approaches the homeless animal differently, I write on how three important overarching areas: religious, legal, and societal, discuss how animals should be treated.

In this paper, I will be analyzing religious texts, legal writings both in place and in draft, and will rely on external works written animal markets and on the school …

Disability And Healthcare Access In Morocco: Social And Cultural Influences, Christa Shipman

Independent Study Project (ISP) Collection

I stepped into the SIT Multiculturalism and Human Rights program as a pre-physical therapy student with experience working and volunteering in the disability rights arena. Striking personal encounters with Moroccans combined with these past experiences drew me to investigate how social and cultural factors influence access to healthcare for people with disabilities. I hypothesized that access to medical care is limited by social or cultural mindsets, perceptions, or beliefs for those in my target population. This subject is relevant to Morocco as a developing country and as a society with, in some cases, fixed social dynamics, while in other areas …

An Eventful Past Predicting A Bizarre Future: Assessing The Influence Of Ocean Circulation On Key Fish Species In Icelandic Waters. An Analysis Of Past Circulation Records In Order To Predict The State Of Demersal Fish Stocks In Future Climate Scenarios, Matthew Engfer

Independent Study Project (ISP) Collection

Feedback-driven changes in North Atlantic Ocean circulation are affecting marine ecosystems off the coast of Iceland and are predicted to have differing outcomes by 2100. In this study, data reflecting Icelandic fish stock distributions was compiled on a map with oceanographic temperature and depth in order to observe patterns of population changes with changes in ocean currents. After evaluating past temperature effects on demersal fish stocks, future habitat predictions were estimated in weaker ocean circulation scenarios. A number of assumptions were made in order to pinpoint a correlation between ocean temperature and fish habitat. Iceland’s unique location and climate offers …

Letters To A Glacier; An Experiment And Critique Of M. Jackson’S Glacier-Ruins Narrative, Lily Fife Schaeufele

Independent Study Project (ISP) Collection

“Words are events, they do things, change things. They transform both speaker and hearer; they feed energy back and forth and amplify it. They feed understanding or emotion back and forth and amplify it.” —Ursula K. Le Guin

Letters to a Glacier; The Buoy Project Isafjordur is an ongoing invitation to the people of Isafjordur to write a letter to a specific glacier in Iceland onto a collection of discarded buoys gathered from the Isafjorudur and Bolungarvik junk yards. Over a period of two days on November 9th and 10th, I actively invited customers in the local cafe Heimabyggð to …

A Socio-Ecological Perspective On Integrating Biodiversity Conservation And The Security-Development Nexus In Sub-Saharan Africa, Lilyon Conroy

Independent Study Project (ISP) Collection

The purpose of this paper is to examine the potential of community-based biodiversity conservation as a security-development strategy in Sub-Saharan Africa. While the creation of the security-development nexus has been an essential component in mainstreaming the principles of sustainable human development, there exist numerous gaps in the nexus. With the aid of four expert interviews, this analysis critically assesses the role of the environment and of local communities in successfully implementing the security-development nexus. Using the existing body of work comprising the security-development nexus as a framework, this research examines why biodiversity conservation has been overlooked as a security-development strategy …

Assessing The Need For And Access To Migrant-Sensitive Rehabilitative Healthcare: An Analysis Of Current Swiss And German Practices, Lauren Cuppy

Independent Study Project (ISP) Collection

In recent years, the noticeable increase in migration has placed scrutiny on the migrant-sensitive services provided in healthcare settings globally. Migrants, in general, experience different health issues and worse health outcomes than non-migrants. In response to this, healthcare systems around the world have begun implementing migrant-sensitive healthcare (MSHC) systems; yet, although nearly a third of the world’s population experiences some health condition that would benefit from rehabilitation, the implementation of MSHC rehabilitation services have been critically understudied. This paper seeks to investigate the geographic and MSHC accessibility of rehabilitation in Geneva, Switzerland to fill the current gap of literature and …

Pubh 3136 – Principles Of Environmental Health, Evans Afriyie-Gyawu

College of Public Health: Faculty Syllabi (2014-2021)

This course examines health issues, scientific understanding of causes, and possible future approaches to control the major environmental health problems in industrialized and developing countries. Topics include how the body reacts to environmental pollutants; physical, chemical, and biological agents of environmental contamination; vectors for dissemination (air, water, soil); solid and hazardous waste; susceptible populations; biomarkers and risk analysis; the scientific basis for policy decisions; and emerging global environmental health problems.

Epid 8230 – Observational Study Design And Analysis, Kelly L. Sullivan

College of Public Health: Faculty Syllabi (2014-2021)

This course will focus on the design and conduct of observational research designs including cohort, case-control and cross-sectional approaches. This course will provide instruction related to issues specific to observational research approaches. Students will develop and present detailed study plans for each research approach.

Pubh 4233 – Topics In Global Epidemiology, Randall Ford Dr.

College of Public Health: Faculty Syllabi (2014-2021)

This course will introduce students to the field of epidemiology as applied in a global context. Students will be introduced to basic concepts of epidemiology as well as an overview of topics across the discipline. Special emphasis will be made on health issues in the low and middle income countries, and case studies will be used as examples to illustrate concepts and topics of epidemiology.

Pubh 4231 - Health Aspects Of Aging, Jamie S. Cromley

College of Public Health: Faculty Syllabi (2014-2021)

This course is intended to familiarize students with promotion of health in an aging population, the notion that aging is a natural part of the lifecycle, community, state and federal health programs and services for the aged. Students will become acquainted with the process of and problems associated with aging in order to effectively manage this important public health issue. Specific health concerns of the elderly including the increase in life expectancy, current life extending research and technology and successful aging will also be examined. Knowledge and understanding of biological, psychological, and sociological aspects of aging as related to health …

Teaching Muscle Function And Physical Fitness: An Afterschool Program For Elementary Schools, Julianna Peters

Honors Program: Senior Projects (Public)

For this creative project, a nine-week club curriculum about muscle function and exercise was designed for upper elementary students (4^th-6^th grade), integrating science and physical education. This curriculum aims to introduce students to a basic understanding of muscle function and their body utilizing a scientific lens while also encouraging movement through the education of different muscle groups. It principally covers the three types of muscle with an emphasis on skeletal muscles. Students engage in experiments and activities focused on different aspects of muscle function and then do exercises focused on certain muscle groups. Additionally, it aims to …

Gβγ Regulates Mitotic Golgi Fragmentation And G2/M Cell Cycle Progression., Kalpana Rajanala, Lauren M. Klayman, Philip B. Wedegaertner

Department of Biochemistry and Molecular Biology Faculty Papers

Heterotrimeric G proteins (αβγ) function at the cytoplasmic surface of a cell's plasma membrane to transduce extracellular signals into cellular responses. However, numerous studies indicate that G proteins also play noncanonical roles at unique intracellular locations. Previous work has established that G protein βγ subunits (Gβγ) regulate a signaling pathway on the cytoplasmic surface of Golgi membranes that controls the exit of select protein cargo. Now, we demonstrate a novel role for Gβγ in regulating mitotic Golgi fragmentation, a key checkpoint of the cell cycle that occurs in the late G2 phase. We show that small interfering RNA-mediated depletion of …

Middle And High School Experiences That Lead First-Generation College Students To Select A Stem Major, James A. Byrum

Theses and Dissertations

Careers in science, technology, engineering, and mathematics (STEM) fields are increasing but the number of qualified individuals to fill these positions are not meeting the demand. One way to increase the number of qualified STEM employees is to garner the interest of students from underrepresented groups in the STEM fields. One of these underrepresented groups are first generation college students (FGCS). Understanding what experiences led FGCS to pursue a degree in a STEM field may help attract more students to STEM and help meet the demand of filling future STEM jobs.

In this study, FGCS in the Opportunity Scholars Program …

Name And Subject Heading Reconciliation To Linked Open Data Authorities Using Virtual International Authority File And Library Of Congress Linked Data Service Apis: A Case Study Featuring Emblematica Online, Tang (Cindy) Tian

Journal Articles

Libraries are actively exploring ways to use Linked Open Data (LOD) services to enhance discovery and facilitate the use of collections. Emblematica Online, which provides integrated discovery of digitized emblem books, incorporates LOD in its design. As an implementation prerequisite, the Virtual International Authority File (VIAF) and Library of Congress (LC) Linked Data Service APIs were used to reconcile name and subject strings from legacy catalog records with global authoritative links from LOD resources. This case study reports on the automated reconciliation process used and examines the efficacy of the APIs in reconciling name and subject heading entities. While …

Investigations On The Surface Chemistry Of Colloidal Quantum Dots Towards Fluorescent Biological Probes, John Hardin Dunlap

Theses and Dissertations

Colloidal semiconductor quantum dots (QDs) have garnered significant interest as promising materials for biological applications due to their improved photostability and narrow, tunable photoluminescence properties compared to organic fluorophores. To facilitate their utility as fluorescent bioimaging probes, QDs must undergo post-synthetic modifications to exchange their native hydrophobic ligands from synthesis with hydrophilic ones that enable colloidal dispersions in aqueous environments. Many examples exist that demonstrate surface modifications for water-soluble QDs and their efficacy in biological systems, however, there is a need to develop a more thorough understanding of how hydrophilic ligands coordinate to QD surfaces in order to develop more …

“Hungering And Thirsting” For Education: Education, Presbyterians, And African Americans In The South, 1880-1920, Rachel Marie Young

Theses and Dissertations

This thesis investigates the relationship between the white-dominated Presbyterian Church in the United States of America (PCUSA) and African Americans from 1880-1920, exploring the motivations, philosophies, and strategies of the PCUSA and the ways that they used education to achieve their goals of helping forge educated and devoutly Christian African Americans. The church’s history highlights the ways in which Presbyterian paternalism developed in the years leading up to 1880, as well as contradictions in white church members’ understandings of race relations and their conflation of civic duty with religious responsibility. The church’s efforts in primary education provide a window into …

Sex Differences And Neuroimmune Effects Of Microglial Response In The Mesolimbic Reward Pathway In Nicotine Substance Use Disorder, Erin Leigh Anderson

Theses and Dissertations

Smoking remains the leading cause of morbidity and mortality in the United States, with less than 5% of smokers attempting to quit succeeding. This is due to the unpleasant withdrawal symptomology, which includes affective symptoms, such as irritability, weight gain, anxiety, and severe craving among others, as well as the cognitive effects, such as difficulty concentrating. This low smoking cessation success rate is also thought to be due to the long-lasting sensitization of nicotinic acetylcholine receptors (nAChRs) leading to long-term neuroadaptations in the brain’s reward system and alterations in synaptic plasticity that occur following chronic nicotine exposure and withdrawal. Glial …

Characterizations Of Dissolved Organic Carbon At Hydrothermal Systems Of The Midcayman Rise, Aaron Mau

Theses and Dissertations

Marine dissolved organic carbon (DOC) is a carbon reservoir comparable in size to all atmospheric CO2 and is composed primarily of refractory material which can be thousands of years old. Circulation through hydrothermal systems has been demonstrated to profoundly alter this material, but the mechanisms that lead to addition, removal, and alteration of DOC are poorly understood. Consequently, the contribution of hydrothermal systems to organic carbon cycling in the deep ocean – and the biological and geochemical processes exhibited at different venting environments – remain highly uncertain.

In January 2020, samples were collected from two hydrothermal vent fields at the …

The Role Of The School-Based Speech-Language Pathologist In The Identification, Assessment, And Remediation Of Dyslexia In Secondary Students, Lisa Marie Alves

Theses and Dissertations

The purpose of this mixed methods action research study was to increase the awareness and knowledge of secondary school professionals on dyslexia, including the role of the school-based speech-language pathologist. Two research questions guiding the quantitative data collection centered on the impact of a PowerPoint dyslexia training on the participants' knowledge and attitudes about dyslexia in the schools. In addition, two qualitative research questions guided the study involving the participants’ perceptions of the role of speech-language pathologists in a dyslexia protocol, and how to implement a dyslexia protocol in secondary-level schools. The results of the study indicate that the training …