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2022

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The Influence Of Predation Environment On The Sensory Ecology Of Brachyrhaphis Rhabdophora, Alexandra Grace Duffy Dec 2022

The Influence Of Predation Environment On The Sensory Ecology Of Brachyrhaphis Rhabdophora, Alexandra Grace Duffy

Theses and Dissertations

Across the animal kingdom, predation is a ubiquitous and omnipresent selective agent for a variety of traits. I aimed to address gaps in our knowledge pertaining to how predation shapes animal behavior. Many species of fish naturally occur in drainages that differ in the density of predators and exhibit obvious population divergence, making them ideal study organisms to investigate predator-driven behavioral evolution. In Chapter 1, I conducted a systematic review of the literature. The purpose of this review was to determine if predation acted as a stronger or weaker selective agent on particular behavioral traits (e.g., foraging, mating, antipredator etc.) …


Narrative Review: Food Image Use For Machine Learnings’ Function In Dietary Assessment And Real Time Nutrition Feedback And Education, Jason Fee Dec 2022

Narrative Review: Food Image Use For Machine Learnings’ Function In Dietary Assessment And Real Time Nutrition Feedback And Education, Jason Fee

Masters Theses, 2020-current

Technology has played a key role in advancing the health and agriculture sectors to improve obesity rates, diseasecontrol, food waste, and overall health disparities. However, these health and lifestyle determinants continue to plague theUnited States population. While new technologies have been and are currently being developed to address these concerns, they may not be practical for the general population. Utilizing machine learning advancement in food recognition using smartphone technology may be a means to improve the dietary component of nutrition assessments while providing valuable nutrition feedback. This narrative review was conducted to assess the current state of the literature on …


A Systematic Approach To Provide Feedback To Presenters At Virtual And Face-To-Face Professional Meetings, S Beth Bierer, Anna Cianciolo, Heeyoung Han, Janice Hanson Dec 2022

A Systematic Approach To Provide Feedback To Presenters At Virtual And Face-To-Face Professional Meetings, S Beth Bierer, Anna Cianciolo, Heeyoung Han, Janice Hanson

2020-Current year OA Pubs

INTRODUCTION: To promote their personal and professional growth, medical educators need practical, actionable feedback on their scholarship, as well as guidance for documenting their scholarship in educator portfolios. We offer a framework and resources to provide formative and summative feedback to faculty, administrators, and/or learners delivering an oral presentation at a face-to-face or virtual health professions education meeting.

METHODS: In 2014, the leadership of the Central Group on Educational Affairs (CGEA) meeting planning committee developed and piloted a process to provide individuals with formative and summative feedback on their oral CGEA research presentations at face-to-face meetings and create a transparent …


United States Pharmacopeia (Usp) <800> Standards: Increasing Compliance Of Safe Handling And Proper Administration Of Usp General Chapter <800> Drugs, Katelyn N. Sinclair Dec 2022

United States Pharmacopeia (Usp) <800> Standards: Increasing Compliance Of Safe Handling And Proper Administration Of Usp General Chapter <800> Drugs, Katelyn N. Sinclair

Master's Projects and Capstones

Problem: United States Pharmacopeia (USP) developed a set of standards to minimize exposure risks to patients, healthcare workers, and the environment when preparing, handling, and administering hazardous drugs (HDs) known as USP <800> HDs. The guidelines became effective December 1, 2019, but additional information is needed to ensure healthcare personnel are complying with the standards.

Context: Two medical surgical units from Hospital A were included in this project. Currently mandatory online modules about USP <800> standards are provided annually to every healthcare worker, but it is unknown if the policies and procedures are being followed appropriately.

Interventions: Active and passive observations as …


Warren B. Davis And The Birth Of Plastic Surgery In Philadelphia: A Historical Vignette, Sarah F. Wagoner, Charles J. Yeo, Renee M. Tholey, James W. Fox, Steven E. Copit Dec 2022

Warren B. Davis And The Birth Of Plastic Surgery In Philadelphia: A Historical Vignette, Sarah F. Wagoner, Charles J. Yeo, Renee M. Tholey, James W. Fox, Steven E. Copit

Department of Surgery Faculty Papers

The field of plastic surgery, formally organized in 1931 with the founding of the American Society of Plastic and Reconstructive Surgery, was shaped in many ways by a small practice of Philadelphia physicians. At the center of the practice was Warren B. Davis, a Philadelphia otolaryngologist and plastics pioneer whose innovations in cleft palate surgery would lead to significant improvements in functional and cosmetic outcomes in his time. In addition to his own innovations, Davis was responsible for the training of John Reese, the inventor of the Reese dermatome that changed the face of burn medicine during World War II. …


The Impact Of Habitual Dietary Fat Intake On Postprandial Lipemia In Older Adults, Sophia A. Bollinger Dec 2022

The Impact Of Habitual Dietary Fat Intake On Postprandial Lipemia In Older Adults, Sophia A. Bollinger

Masters Theses, 2020-current

Postprandial lipemia (PPL) is a risk factor for cardiovascular disease (CVD). Many older Americans experience elevated PPL due to a chronically high-fat diet and an inefficient ability to clear triglycerides (TG) from circulation. TG levels are typically measured in a fasted state; however, postprandial TG levels may be more strongly associated with CVD risk. This study grouped ten older adults into two dietary consumption fat categories and examined the response to an acute high-fat meal by measuring postprandial blood cholesterol, TG, and glucose (GLU) at baseline, 30-minutes post-meal, 60 minutes, 90 minutes, 120 minutes, 180 minutes, and 240 minutes. Participants …


Sunsetting Excessive Chest X-Rays In An Intensive Care Unit: A Quality Improvement Project, Cassandra Sweet Dec 2022

Sunsetting Excessive Chest X-Rays In An Intensive Care Unit: A Quality Improvement Project, Cassandra Sweet

Doctors of Nursing Practice (DNP) Final Projects, 2020-current

In the cardiovascular service line at an academic medical center in the southeastern United States, obtaining daily chest x-rays still occurred despite evidence that it is unnecessary and possibly even harmful. This quality improvement project was implemented in a 24-bed Cardiovascular Intensive Care Unit and 20-bed acute care unit, together considered to be the cardiac service line. Using the implementation framework of the Model for Improvement and Plan/Do/Study/Act, a guideline that outlines appropriate times to obtain a chest x-ray based on the American College of Radiology’s appropriateness criteria was created. Daily chest x-rays were eliminated and replaced with an on-demand …


Postoperative Atrial Fibrillation Prevention: A Quality Improvement Project, Emily O. Schneiderman Dec 2022

Postoperative Atrial Fibrillation Prevention: A Quality Improvement Project, Emily O. Schneiderman

Doctors of Nursing Practice (DNP) Final Projects, 2020-current

Postoperative atrial fibrillation remains one of the most common complications after cardiac surgery despite surgical and medical advances in the field. While generally transient, postoperative atrial fibrillation increases long-term morbidity and mortality, hospital length of stay, and financial obligation. The postoperative heart's unique chemical and physical properties make tactics for preventing and treating postoperative atrial fibrillation differ from classic atrial fibrillation management. This quality improvement project utilizes a care bundle for non-pharmacologic measures and early beta-blockade administration to reduce the incidence of postoperative atrial fibrillation. Implementation of this care bundle establishes a standard of care, increases clinician knowledge and accountability, …


Implementing Routine Depression Screening In An Urgent Care Setting: An Implementation Science Project, Lori Conyers Dec 2022

Implementing Routine Depression Screening In An Urgent Care Setting: An Implementation Science Project, Lori Conyers

Doctors of Nursing Practice (DNP) Final Projects, 2020-current

Identifying patients with depression is essential, and early detection of depression leads to early intervention. Routine screening of patients for depression is the responsibility of the primary care provider, but many patients have not had a primary care visit in the recent past. Those patients without a primary care provider are likely not being screened for depression. Urgent care (UC) may be the best opportunity to screen patients who do not have a medical home. However, the dynamic nature of the urgent care setting may dissuade staff from engaging in routine screening. As a quality improvement (QI) effort, regular PHQ …


Medication Reconciliation Policy Analysis: A Collaborative Project With The Principal Hospital In Cayman Islands Health System, Bethany Landes Dec 2022

Medication Reconciliation Policy Analysis: A Collaborative Project With The Principal Hospital In Cayman Islands Health System, Bethany Landes

Doctors of Nursing Practice (DNP) Final Projects, 2020-current

Medication errors, readmissions, and chronic disease management complications are modifiable healthcare problems. Standardized Medication Reconciliation (Med Rec) policies can impact healthcare organizations' patient safety by reducing these medication errors, decreasing readmission rates, enhance the management of chronic disease while also offering fiscal stewardship for healthcare systems. Medication management standardized policies are an expectation of systems aiming to gain Joint Commission (JC) accreditation. The principal hospital of the Cayman Islands does not have a medication reconciliation policy. Using The Eightfold Path to More Effective Problem Solving, multiple policy options that offer evidence-based recommendations were reviewed for consideration of a standardized Med …


Developing Influential Nurse Leaders: Utilizing Strengths And Styles Assessments To Create Individualized, Intentional Coaching, Linda Shepherd Dec 2022

Developing Influential Nurse Leaders: Utilizing Strengths And Styles Assessments To Create Individualized, Intentional Coaching, Linda Shepherd

Doctors of Nursing Practice (DNP) Final Projects, 2020-current

Abstract

Background: A north-central Virginia university and a hospital in the British West Indies (BWI) entered a collaborative agreement in 2020. Growing competitive environments heightened awareness and urgency in creating expansively competent, influential nurse leaders in the BWI. Without formalized data to quantify or validate nurse manager strengths, leadership style, or competencies, an assessment of these items and an evidence-based coaching intervention were performed.

Methods: The population for this evidence-based (EB) practice project was 20 inpatient nurse leaders. The Multifactor Leadership Questionnaire (MLQ) and the Clifton Strength Finders Assessment (CSF) for Managers were deployed as pre-intervention assessment tools. …


Deanne Bryant Conducts Iso Holiday Pops That Seats Young Musicians With The Pros, Lauren Warnecke Dec 2022

Deanne Bryant Conducts Iso Holiday Pops That Seats Young Musicians With The Pros, Lauren Warnecke

Interviews for WGLT

ISO Holiday Pops seats young musicians with the pros — and hosts a Christmas sing-along for all. Deanne Bryant leads the orchestra.


De Novo Non-Alcoholic Fatty Liver Disease After Pancreatectomy: A Systematic Review, Parth Shah, Vanisha Patel, Motaz Ashkar Dec 2022

De Novo Non-Alcoholic Fatty Liver Disease After Pancreatectomy: A Systematic Review, Parth Shah, Vanisha Patel, Motaz Ashkar

2020-Current year OA Pubs

BACKGROUND: As operative techniques and mortality rates of pancreatectomy have improved, there has been a shift in focus to maintaining and improving the nutritional status of these patients as we continue to learn more about post-operative complications. Although pancreatic endocrine and exocrine insufficiencies are known complications of pancreatectomy, increased longevity of these patients has also led to a higher incidence of

AIM: To identify and summarize patterns and risk factors of post-pancreatectomy

METHODS: We performed a database search on PubMed selecting papers published between 2001 and 2022 in the English language. PubMed was last accessed 1 June 2022.

RESULTS: Various …


An Fmri Protocol For Administering Liquid Incentives To Human Participants, Debbie M Yee, Jennifer L Crawford, Todd S Braver Dec 2022

An Fmri Protocol For Administering Liquid Incentives To Human Participants, Debbie M Yee, Jennifer L Crawford, Todd S Braver

2020-Current year OA Pubs

This protocol describes the materials and approaches for administering liquid incentives to human participants during fMRI scanning. We first describe preparation of the liquid solutions (e.g., neutral solution and saltwater) and liquid delivery setups. We then detail steps to connect the setups to the computer-controlled syringe pump in the MRI control room, followed by procedures for testing the syringe pump dispensing a liquid bolus during the task. Description of custom software and required adapters for implementing the liquid setup are included. For complete details on the use and execution of this protocol, please refer to Yee et al. (2021).


The Perceptions Of School Heads On The Deployment Of Field Study Students, Maria Isidra P. Marcos, Pastora S. De Guzman, Arnie C. Osabel, Maria Theresa A. Dela Cruz, Mark Ren D. Villaflor, Jonathan L. Mañas Dec 2022

The Perceptions Of School Heads On The Deployment Of Field Study Students, Maria Isidra P. Marcos, Pastora S. De Guzman, Arnie C. Osabel, Maria Theresa A. Dela Cruz, Mark Ren D. Villaflor, Jonathan L. Mañas

U.P. Los Baños Journal

This study identified the perceptions of school heads of the Department of Education in the selected primary and secondary schools in the Division of Nueva Ecija and Gapan City about the deployment of the field study students of Nueva Ecija University of Science and Technology, San Isidro Campus, this A.Y. 2022-2023. First, the profile of the respondents, such as their highest educational attainment, current position, academic rank, and length of service, were identified in the study. There were 29 school heads in the selected schools of the Division of Nueva Ecija and Gapan. Second, in order to gather the perceptions …


Developing A Healthy Masculinities Program On A University Campus, David A. Scott, Freeman Woolnough, Tony W. Cawthon Dec 2022

Developing A Healthy Masculinities Program On A University Campus, David A. Scott, Freeman Woolnough, Tony W. Cawthon

New York Journal of Student Affairs

Amid increased concerns about mental health, sexual violence, and substance use among college students, college campuses are looking toward developing targeted programming to help counteract these concerning trends. This practitioner paper highlights the development and impacts of a program at a Canadian institution, which focuses on healthy masculinity and identity development. Although still in the early stages, the feedback and observations are indicative of the powerful potential of this type of programming to improve healthy masculinity on college campuses.


Computational Symmetric Grain Boundary Energy Of Thorium Dioxide, Brendan J. Carroll Dec 2022

Computational Symmetric Grain Boundary Energy Of Thorium Dioxide, Brendan J. Carroll

Honors College Theses

With fossil fuels being depleted at a faster rate than ever, there has been an effort to convert fossil fuel energy to different forms of green energy. One of these forms is nuclear power, and while nuclear power itself is not new, new fuel sources for different types of reactors are being developed. This study aims to do computational experiments on Thorium Dioxide (a potential new nuclear fuel source) to look for the lowest grain boundary energy and what the effect of grain boundary conditions on the energy. Different orientations of the materials grain boundary were modeled and molecular dynamic …


Advancing Global Equity In Cardiac Care As Cardiac Implantable Electronic Device Reuse Comes Of Age, Daniel Alyesh, Behzad B. Pavri, William Choe, Mam Chandara, Mahmoud U. Sani, Phong Dinh Phan, Aime Bonny, Paul Khairy, Sunil K. Sinha, Uma Srivatsa, Joseph E. Marine, Kim Eagle, Thomas C. Crawford, Dhanunjaya Lakkireddy, Sri Sundaram Dec 2022

Advancing Global Equity In Cardiac Care As Cardiac Implantable Electronic Device Reuse Comes Of Age, Daniel Alyesh, Behzad B. Pavri, William Choe, Mam Chandara, Mahmoud U. Sani, Phong Dinh Phan, Aime Bonny, Paul Khairy, Sunil K. Sinha, Uma Srivatsa, Joseph E. Marine, Kim Eagle, Thomas C. Crawford, Dhanunjaya Lakkireddy, Sri Sundaram

Division of Cardiology Faculty Papers

A nation’s health and economic development are inextricably and synergistically connected. Stark differences exist between wealthy and developing nations in the use of cardiac implantable electronic devices (CIEDs). Cardiovascular disease is now the leading cause of death in low- and middle-income countries (LMIC), with a significant burden from rhythm-related diseases. As science, technology, education, and regulatory frameworks have improved, CIED recycling for exportation and reuse in LMIC has become possible and primed for widespread adoption. In our manuscript, we outline the science and regulatory pathways regarding CIED reuse. We propose a pathway to advance this technology that includes creating a …


Motives For (In)Effective Giving: Comparing Rural And Urban Groups In South Africa., Luvuyo Bulelani Magwaza Dec 2022

Motives For (In)Effective Giving: Comparing Rural And Urban Groups In South Africa., Luvuyo Bulelani Magwaza

Master's Theses

Different cultures have their own set of norms and values that not only shape people’s motives but also influences their decision making. What may be viewed as logical and ethical in one culture, may be seen as illogical or unethical in another. One area that is consistently affected by cross-cultural differences in motives is charitable giving. Recently, there has been an increase in interest around effective altruism— a social movement and philosophy that argues, people should give to charities that do the most good. Prior research that has found that people do not give based on efficiency; instead, people give …


Deciphering The Mechanism And Function Of Hsp100 Unfoldases From Protein Structure, Grace Lee, Rebecca S Kim, Sang Bum Lee, Sukyeong Lee, Francis T F Tsai Dec 2022

Deciphering The Mechanism And Function Of Hsp100 Unfoldases From Protein Structure, Grace Lee, Rebecca S Kim, Sang Bum Lee, Sukyeong Lee, Francis T F Tsai

Faculty, Staff and Students Publications

Hsp100 chaperones, also known as Clp proteins, constitute a family of ring-forming ATPases that differ in 3D structure and cellular function from other stress-inducible molecular chaperones. While the vast majority of ATP-dependent molecular chaperones promote the folding of either the nascent chain or a newly imported polypeptide to reach its native conformation, Hsp100 chaperones harness metabolic energy to perform the reverse and facilitate the unfolding of a misfolded polypeptide or protein aggregate. It is now known that inside cells and organelles, different Hsp100 members are involved in rescuing stress-damaged proteins from a previously aggregated state or in recycling polypeptides marked …


Description Of A New Species Of Aleuroparadoxus Quaintance And Baker (Hemiptera: Aleyrodidae) From Guatemala, José Francisco García Ochaeta, Anil Kumar Dubey Dec 2022

Description Of A New Species Of Aleuroparadoxus Quaintance And Baker (Hemiptera: Aleyrodidae) From Guatemala, José Francisco García Ochaeta, Anil Kumar Dubey

Insecta Mundi

Puparia of a new whitefly, Aleuroparadoxus marisae García-Ochaeta and Dubey, new species (Hemiptera: Aleyrodidae), collected on leaves of Brosimum alicastrum Sw. in Santa Ana, Petén, Guatemala, and on Pimenta dioica (L). Merr. in Calzada Mopán, Dolores, Petén are described and illustrated. Drawings of morphological structures and differential diagnosis of the puparium are provided, and differences from congeners are discussed. A key to puparia of the Aleuroparadoxus Quaintance and Baker species is included.


Possible Overestimation Of Nitrogen Dioxide Outgassing During The Beirut 2020 Explosion, Ashraf Farahat, Nayla El-Kork, Ramesh P. Singh, Feng Jing Dec 2022

Possible Overestimation Of Nitrogen Dioxide Outgassing During The Beirut 2020 Explosion, Ashraf Farahat, Nayla El-Kork, Ramesh P. Singh, Feng Jing

Biology, Chemistry, and Environmental Sciences Faculty Articles and Research

On 4 August 2020, a strong explosion occurred near the Beirut seaport, Lebanon and killed more than 200 people and damaged numerous buildings in the vicinity. As Amonium Nitrate (AN) caused the explosion, many studies claimed the release of large amounts of NO2 in the atmosphere may have resulted in a health hazard in Beirut and the vicinity. In order to reasonably evaluate the significance of NO2 amounts released in the atmosphere, it is important to investigate the spatio-temporal distribution of NO2 during and after the blast and compare it to the average day-to-day background emissions from …


The Antiregulatory Arsenal, Antidemocratic Can(N)Ons, And The Waters Wars, William W. Buzbee Dec 2022

The Antiregulatory Arsenal, Antidemocratic Can(N)Ons, And The Waters Wars, William W. Buzbee

Georgetown Law Faculty Publications and Other Works

The Clean Water Act has become a centerpiece in an enduring multifront battle against both environmental regulation and federal regulatory power in all of its settings. This Article focuses on the emergence, elements, and linked uses of an antiregulatory arsenal now central to battles over what are federally protected “waters of the United States.” This is the key jurisdictional hook for CWA jurisdiction, and hence, logically, has become the heart of CWA contestation. The multi-decade battle over Waters protections has both drawn on emergent antiregulatory moves and generated new weapons in this increasingly prevalent and powerful antiregulatory arsenal. This array …


Developing A Criteria Framework For The Evaluation Of The Image Of The City Case Study: Mansoura Downtown, Ahmed Mohamed Thabet Dec 2022

Developing A Criteria Framework For The Evaluation Of The Image Of The City Case Study: Mansoura Downtown, Ahmed Mohamed Thabet

Mansoura Engineering Journal

Downtowns are important as the open new horizons of development through contribute to the upgrade of traditional communities. The presence of city centers and downtowns has been approved as a major influential component on the image of the city as it can serve as a unifying force in a city or town through triggering force for community enrichment. Lynch [1] described the environmental image in terms of five structural features which are essentially making sense of cities urban spaces: districts, edges, paths, nodes, and landmarks. These elements face continuous transformations that make their perception more complex and multi-oriented. The urban …


Early Detection, Rapid Response Invasives Management: Documenting Perennial Pepperweed In New Hampshire Using Eddmaps, Final Project Report, December 2022, Malin Clyde Dec 2022

Early Detection, Rapid Response Invasives Management: Documenting Perennial Pepperweed In New Hampshire Using Eddmaps, Final Project Report, December 2022, Malin Clyde

UNH Cooperative Extension

No abstract provided.


Increasing Hpv Vaccination In Adolescents, Emily Martin, Emily Hartmann Dec 2022

Increasing Hpv Vaccination In Adolescents, Emily Martin, Emily Hartmann

Doctor of Nursing Practice Projects

Human papillomavirus virus (HPV) is a sexually transmitted disease that can negatively affect both males and females by leading to cervical, vaginal, vulvar, anal, penile, and oropharyngeal cancer. Vaccinating against HPV using the Gardasil vaccine is an effective method to prevent HPV, however, vaccination rates are still unacceptably low in adolescents ages 11 to 14. Pediatric providers should encourage and strongly recommend HPV vaccines to all adolescents. Addressing and easing parental hesitancy is a key component to improving vaccine acceptance. The setting for the project was a rural pediatric office in southern Illinois where HPV vaccination rates are lower than …


Dexmedetomidine As An Adjunct Therapy To Neuraxial Anesthesia In Labor And Delivery, Anthony Nungesser Dec 2022

Dexmedetomidine As An Adjunct Therapy To Neuraxial Anesthesia In Labor And Delivery, Anthony Nungesser

Doctor of Nursing Practice Projects

In 2011, the Centers for Disease Control (CDC) declared the opioid crisis an epidemic, and in 2017 it was declared a public health emergency. In labor and delivery, neuraxial anesthesia has been used for over a hundred years to provide pain relief for parturients. Although many alternatives have been studied, opioids are the most frequently used local anesthetic adjuvants, and their use in neuraxial blocks has evolved over the last 50 years (Swain et al., 2017). While neuraxial opioids have proven to be an effective adjunct for pain relief, they are associated with undesirable side effects as well as the …


Assessment Of Caregiver Burden In A Memory Loss Clinic, Andrea Perkins Dec 2022

Assessment Of Caregiver Burden In A Memory Loss Clinic, Andrea Perkins

Doctor of Nursing Practice Projects

Background: Over 131,000 people in Illinois identify themselves as caregivers of someone with memory loss. The family caregiver may provide care including, but not limited to, assistance with activities of daily living, financial responsibilities, behavior management, and scheduling, and transportation to medical appointments. The care provided by the caregivers may lead to caregiver burden symptoms of depression, anxiety, and perceived stress. Purpose: Health care providers at a central Illinois memory clinic are not currently completing formal assessments of caregiver burden. This quality improvement project was done to determine if the current memory loss program services provide enough support …


Mitochondrial Autophagy In Ischemic Aged Livers, Jae-Sung Kim, William C Chapman, Yiing Lin Dec 2022

Mitochondrial Autophagy In Ischemic Aged Livers, Jae-Sung Kim, William C Chapman, Yiing Lin

2020-Current year OA Pubs

Mitochondrial autophagy (mitophagy) is a central catabolic event for mitochondrial quality control. Defective or insufficient mitophagy, thus, can result in mitochondrial dysfunction, and ultimately cell death. There is a strong causal relationship between ischemia/reperfusion (I/R) injury and mitochondrial dysfunction following liver resection and transplantation. Compared to young patients, elderly patients poorly tolerate I/R injury. Accumulation of abnormal mitochondria after I/R is more prominent in aged livers than in young counterparts. This review highlights how altered autophagy is mechanistically involved in age-dependent hypersensitivity to reperfusion injury.


A Whole-Genome Sequencing Study Implicates Gramd1b In Multiple Sclerosis Susceptibility, Federica Esposito, Bryan Bollman, Laura Piccio, Et Al. Dec 2022

A Whole-Genome Sequencing Study Implicates Gramd1b In Multiple Sclerosis Susceptibility, Federica Esposito, Bryan Bollman, Laura Piccio, Et Al.

2020-Current year OA Pubs

While the role of common genetic variants in multiple sclerosis (MS) has been elucidated in large genome-wide association studies, the contribution of rare variants to the disease remains unclear. Herein, a whole-genome sequencing study in four affected and four healthy relatives of a consanguineous Italian family identified a novel missense c.1801T > C (p.S601P) variant in the