Open Access. Powered by Scholars. Published by Universities.®

Medicine and Health Sciences Commons™

Open Access. Powered by Scholars. Published by Universities.®

2022

Discipline
Institution
Keyword
Publication
Publication Type
File Type

Articles 12841 - 12870 of 23797

Full-Text Articles in Medicine and Health Sciences

Insulin Therapy Versus Oral Sitagliptin For Treatment Of Latent Autoimmune Diabetes In Adults, Sarah Nasser Apr 2022

Insulin Therapy Versus Oral Sitagliptin For Treatment Of Latent Autoimmune Diabetes In Adults, Sarah Nasser

Clinical Research in Practice: The Journal of Team Hippocrates

A clinical decision report using:

Hals IK, Fiskvik Fleiner H, Reimers N, et al. Investigating optimal β-cell-preserving treatment in latent autoimmune diabetes in adults: Results from a 21-month randomized trial. Diabetes Obes Metab. 2019;21(10):2219-2227. https://doi.org/10.1111/dom.13797

for a patient with an aversion to needles.


Indications For Esophagogastroduodenoscopy In Anemic Patients Without Overt Signs Of Upper Gastrointestinal Bleeding, Geoffrey M. Ginter Apr 2022

Indications For Esophagogastroduodenoscopy In Anemic Patients Without Overt Signs Of Upper Gastrointestinal Bleeding, Geoffrey M. Ginter

Clinical Research in Practice: The Journal of Team Hippocrates

A clinical decision report using:

Majid S, Salih M, Wasaya R, Jafri W. Predictors of gastrointestinal lesions on endoscopy in iron deficiency anemia without gastrointestinal symptoms. BMC Gastroenterol. 2008;8:52. https://doi.org/10.1186/1471-230X-8-52

for a patient with a complicated presentation of severe anemia


Corticosteroid Wrist Injections Provide Better Symptomatic Relief Than Nocturnal Wrist Splints For Short Term Improvement Of Mild-To-Moderate Carpal Tunnel Syndrome, Christopher Bracken Apr 2022

Corticosteroid Wrist Injections Provide Better Symptomatic Relief Than Nocturnal Wrist Splints For Short Term Improvement Of Mild-To-Moderate Carpal Tunnel Syndrome, Christopher Bracken

Clinical Research in Practice: The Journal of Team Hippocrates

A clinical decision report using

Chesterton LS, Blagojevic-Bucknall M, Burton C, et al. The clinical and cost-effectiveness of corticosteroid injection versus night splints for carpal tunnel syndrome (INSTINCTS trial): an open-label, parallel group, randomised controlled trial. Lancet. 2018;392(10156):1423-1433. https://doi.org/10.1016/S0140-6736(18)31572-1

for a patient requiring short-term relief from carpal tunnel syndrome.


Use Of Long-Acting Injectable Cabotegravir And Rilpivirine As An Alternative For Treatment In Hiv Positive Patients, Aravindh Nirmalan Apr 2022

Use Of Long-Acting Injectable Cabotegravir And Rilpivirine As An Alternative For Treatment In Hiv Positive Patients, Aravindh Nirmalan

Clinical Research in Practice: The Journal of Team Hippocrates

A clinical decision report using

Mantsios A, Murray M, Karver TS, et al. Efficacy and Freedom: Patient Experiences with the Transition from Daily Oral to Long-Acting Injectable Antiretroviral Therapy to Treat HIV in the Context of Phase 3 Trials. AIDS Behav. 2020;24(12):3473-3481. https://doi.org/10.1007/s10461-020-02918-x

for a young adult patient struggling with adherence.


Renal Replacement Therapy May Be Initiated In Patients With Hepatorenal Syndrome Who Are Not Transplant Candidates, Laura Donohue Apr 2022

Renal Replacement Therapy May Be Initiated In Patients With Hepatorenal Syndrome Who Are Not Transplant Candidates, Laura Donohue

Clinical Research in Practice: The Journal of Team Hippocrates

A clinical decision report using

Allegretti AS, Parada XV, Eneanya ND, et al. Prognosis of Patients with Cirrhosis and AKI Who Initiate RRT. Clin J Am Soc Nephrol. 2018;13(1):16-25. https://doi.org/10.2215/CJN.03610417

for a patient being considered for RRT who was not yet a candidate for liver transplant.


Copper Intrauterine Device Is An Appropriate Method Of Contraception For A Patient With A History Of Systemic Lupus Erythematosus, Sydney E. Daviskiba Apr 2022

Copper Intrauterine Device Is An Appropriate Method Of Contraception For A Patient With A History Of Systemic Lupus Erythematosus, Sydney E. Daviskiba

Clinical Research in Practice: The Journal of Team Hippocrates

A clinical decision report using

Sánchez-Guerrero J, Uribe AG, Jiménez-Santana L, et al. A Trial of Contraceptive Methods in Women with Systemic Lupus Erythematosus. N Engl J Med. 2005;353(24):2539-2588. https:/doi.org/10.1056/nejmoa050817

for a patient with systemic lupus erythematosus choosing a method of contraception.


At-Home Aerobic Exercise Improves Functional Ability Of Patients With Rheumatoid Arthritis With Limited Exercise Options, Daniel Harris Apr 2022

At-Home Aerobic Exercise Improves Functional Ability Of Patients With Rheumatoid Arthritis With Limited Exercise Options, Daniel Harris

Clinical Research in Practice: The Journal of Team Hippocrates

A clinical decision report using

Neuberger GB, Aaronson LS, Gajewski B, et al. Predictors of exercise and effects of exercise on symptoms, function, aerobic fitness, and disease outcomes of rheumatoid arthritis. Arthritis Rheum. 2007;57(6):943-952. https://doi.org/10.1002/art.22903

and its application for a patient with rheumatoid arthritis.


Exercise Therapy Improves Quality Of Life In Patients With Postural Orthostatic Tachycardia Syndrome (Pots), Heya Batah, Scott L. Baughan Apr 2022

Exercise Therapy Improves Quality Of Life In Patients With Postural Orthostatic Tachycardia Syndrome (Pots), Heya Batah, Scott L. Baughan

Clinical Research in Practice: The Journal of Team Hippocrates

A clinical decision report using

George SA, Bivens TB, Howden EJ, et al. The international POTS registry: Evaluating the efficacy of an exercise training intervention in a community setting. Heart Rhythm. 2016;13(4):943-950. https://doi.org/10.1016/j.hrthm.2015.12.012

for exercise efficacy in patients with POTS.


Florida Healthcare Workers Responses To Covid-19, Kristen K. Hicks-Roof Apr 2022

Florida Healthcare Workers Responses To Covid-19, Kristen K. Hicks-Roof

Showcase of Faculty Scholarly & Creative Activity

These two articles were published to describe the landscape of Florida healthcare professionals' responses to COVID-19. These data were collected in mid-2020 when times were unpredictable. These findings shed a lot of light on how we need to better train healthcare professionals on telehealth, interprofessional collaboration and communication among each other and patients.


Increased Risk Of Mental Illness Due To Epigenetic Alteration Of The Nr3c1 Gene After Early Life Adversity., Erin Mccue Apr 2022

Increased Risk Of Mental Illness Due To Epigenetic Alteration Of The Nr3c1 Gene After Early Life Adversity., Erin Mccue

Thinking Matters Student Research Symposium

Early life adversity (ELA), such as malnutrition, abuse, and economic disparity, is an issue commonly seen in adolescents, a group already facing increased risk for stress-related disorders. This review of current literature reveals that gestational stress exposure, as well as variations in maternal care during postnatal development, cause latent effects on the epigenome, specifically impacting the glucocorticoid receptors (GRs) encoded by the NR3C1 gene. GRs bind to glucocorticoids to regulate the body’s neuroendocrine stress response. However, in those with a history of ELA, the number of GRs is reduced, generating dysregulation within the hypothalamic-pituitary-adrenal (HPA) axis. Rodent studies are utilized …


دور تطابق أو سوء تطابق الأسنان في التكيف الاجتماعي لدى طلبة الجامعة في الأردن. The Effect Of Occlusion And Malocclusion On Social Adaptation For Student's University In Jordan, قحطان أحمد الظاهر Apr 2022

دور تطابق أو سوء تطابق الأسنان في التكيف الاجتماعي لدى طلبة الجامعة في الأردن. The Effect Of Occlusion And Malocclusion On Social Adaptation For Student's University In Jordan, قحطان أحمد الظاهر

Association of Arab Universities Journal for Education and Psychology

هدف البحث إلى معرفة تأثير تطابق أو سوء تطابق الأسنان في التكيف الاجتماعي. تكونت عينة البحث من (234) طالباً وطالبة من جامعة عمان الأهلية، (95) طالباً و(139) طالبة. اتصف (132) منهم بتطابق الأسنان و(102) منهم بسوء تطابق الأسنان.

تطلب البحث تطوير استبيان للتكيف الاجتماعي. طبق الاستبيان على العينة المذكورة بعد التحقق من صدقه وثباته. توصلت النتائج إلى وجود فروق ذات دلالة إحصائية في التكيف الاجتماعي ولصالح فئة تطابق الأسنان بينما لم تكن هناك فروق ذات دلالة إحصائية بين الذكور والإناث. كما أظهرت النتائج أن جميع أفراد العينة كانت متكيفة اجتماعية بدرجات مختلفة.

The study aimed at investigating the effect of …


Vermont: A Health-Focused Landscape Analysis, Katherine Ahrens Phd, Amanda Burgess Mppm, Mph, Carly Milkowski Mph, Louisa Munk Mph, Yvonne Jonk Phd, Erika C. Ziller Phd Apr 2022

Vermont: A Health-Focused Landscape Analysis, Katherine Ahrens Phd, Amanda Burgess Mppm, Mph, Carly Milkowski Mph, Louisa Munk Mph, Yvonne Jonk Phd, Erika C. Ziller Phd

Population Health

The Northern Border Regional Commission State and Region Chartbooks compile county- and state-level data related to health and health care access for the Northern Border Region and the individual states of Maine, New Hampshire, New York, and Vermont. Topics covered in the chartbooks include demographic and socioeconomic characteristics, access to care, health outcomes, mortality rates, Health Professional Shortage Areas, and the location of Rural Health Clinics, Federally Qualified Health Centers, hospitals, and substance use treatment facilities. When data allow, we highlight the counties with the worse performance on a measure, compared with the rest of the counties in the Northern …


The Value Of Education: School Policy Decisions During The Covid-19 Pandemic, Elika W. Somani Apr 2022

The Value Of Education: School Policy Decisions During The Covid-19 Pandemic, Elika W. Somani

Individually Designed Interdepartmental Major Honors Project

During the COVID-19 pandemic, lacking national U.S. policies, wide variation and conflict over chosen public school policy decisions emerged. What factors and guidelines informed the decision-making process in K-12 public schools during the COVID-19 pandemic and who were the key stakeholders? This study examines three school district types – a large city, medium city, and small-town – across Minnesota as case studies to unpack how policy decisions were made during the pandemic. Stakeholder interviews uncovered that the school decision-making process was a) connected to a district's political opinions, b) made by the superintendent and school board, c) primarily influenced by …


New Hampshire: A Health-Focused Landscape Analysis, Katherine Ahrens Phd, Amanda Burgess Mppm, Mph, Carly Milkowski Mph, Louisa Munk Mph, Yvonne Jonk Phd, Erika C. Ziller Phd Apr 2022

New Hampshire: A Health-Focused Landscape Analysis, Katherine Ahrens Phd, Amanda Burgess Mppm, Mph, Carly Milkowski Mph, Louisa Munk Mph, Yvonne Jonk Phd, Erika C. Ziller Phd

Population Health

The Northern Border Regional Commission State and Region Chartbooks compile county- and state-level data related to health and health care access for the Northern Border Region and the individual states of Maine, New Hampshire, New York, and Vermont. Topics covered in the chartbooks include demographic and socioeconomic characteristics, access to care, health outcomes, mortality rates, Health Professional Shortage Areas, and the location of Rural Health Clinics, Federally Qualified Health Centers, hospitals, and substance use treatment facilities. When data allow, we highlight the counties with the worse performance on a measure, compared with the rest of the counties in the …


Maine: A Health-Focused Landscape Analysis, Katherine Ahrens Phd, Amanda Burgess Mppm, Mph, Carly Milkowski Mph, Yvonne Jonk Phd, Louisa Munk Mph, Erika Ziller Phd Apr 2022

Maine: A Health-Focused Landscape Analysis, Katherine Ahrens Phd, Amanda Burgess Mppm, Mph, Carly Milkowski Mph, Yvonne Jonk Phd, Louisa Munk Mph, Erika Ziller Phd

Population Health

The Northern Border Regional Commission State and Region Chartbooks compile county- and state-level data related to health and health care access for the Northern Border Region and the individual states of Maine, New Hampshire, New York, and Vermont. Topics covered in the chartbooks include demographic and socioeconomic characteristics, access to care, health outcomes, mortality rates, Health Professional Shortage Areas, and the location of Rural Health Clinics, Federally Qualified Health Centers, hospitals, and substance use treatment facilities. When data allow, we highlight the counties with the worse performance on a measure, compared with the rest of the counties in the …


The Northern Border Region: A Health-Focused Landscape Analysis, Katherine Ahrens Phd, Amanda Burgess Mppm, Mph, Carly Milkowski Mph, Louisa Munk Mph, Yvonne Jonk Phd, Erika Ziller Phd Apr 2022

The Northern Border Region: A Health-Focused Landscape Analysis, Katherine Ahrens Phd, Amanda Burgess Mppm, Mph, Carly Milkowski Mph, Louisa Munk Mph, Yvonne Jonk Phd, Erika Ziller Phd

Population Health

The Northern Border Regional Commission State and Region Chartbooks compile county- and state-level data related to health and health care access for the Northern Border Region and the individual states of Maine, New Hampshire, New York, and Vermont. Topics covered in the chartbooks include demographic and socioeconomic characteristics, access to care, health outcomes, mortality rates, Health Professional Shortage Areas, and the location of Rural Health Clinics, Federally Qualified Health Centers, hospitals, and substance use treatment facilities. When data allow, we highlight the counties with the worse performance on a measure, compared with the rest of the counties in the Northern …


New York: A Health-Focused Landscape Analysis, Katherine Ahrens Phd, Amanda Burgess Mppm, Mph, Carly Milkowski Mph, Louisa Munk Mph, Yvonne Jonk Phd, Erika Ziller Phd Apr 2022

New York: A Health-Focused Landscape Analysis, Katherine Ahrens Phd, Amanda Burgess Mppm, Mph, Carly Milkowski Mph, Louisa Munk Mph, Yvonne Jonk Phd, Erika Ziller Phd

Population Health

The Northern Border Regional Commission State and Region Chartbooks compile county- and state-level data related to health and health care access for the Northern Border Region and the individual states of Maine, New Hampshire, New York, and Vermont. Topics covered in the chartbooks include demographic and socioeconomic characteristics, access to care, health outcomes, mortality rates, Health Professional Shortage Areas, and the location of Rural Health Clinics, Federally Qualified Health Centers, hospitals, and substance use treatment facilities. When data allow, we highlight the counties with the worse performance on a measure, compared with the rest of the counties in the Northern …


Bibliometric Analysis Of Coronavirus Disease 2019 Medical Research Production From Saudi Arabia, Amr A. Jamal, Samar Binkheder, Raniah N. Aldekhyyel, Jwaher Almulhem, Shabana Tharkar, Afaf Ali Batis, Layal Hneiny Apr 2022

Bibliometric Analysis Of Coronavirus Disease 2019 Medical Research Production From Saudi Arabia, Amr A. Jamal, Samar Binkheder, Raniah N. Aldekhyyel, Jwaher Almulhem, Shabana Tharkar, Afaf Ali Batis, Layal Hneiny

Faculty Publications

In response to the coronavirus disease 2019 (COVID-19) pandemic and as an attempt to fill the knowledge gap related to this topic, extensive research in this area has been published. The Kingdom of Saudi Arabia, as one of the countries affected by the pandemic, has contributed to the growing body of scientific literature related to COVID-19. To measure research contribution produced by Saudi Arabian affiliated researchers, we conducted a bibliometric analysis of COVID-19 research across two databases: the Web of Science and Scopus. Analysis was conducted on February 2, 2021 and included all relevant COVID-19-related publications (n = 1510). …


A Case Of Blue Toes: Dic As The Initial Presentation Of Metastatic Pancreatic Adenocarcinoma, Bipul Gnyawali, Christina E. Borchers, Sarah Doell, Katherine House Apr 2022

A Case Of Blue Toes: Dic As The Initial Presentation Of Metastatic Pancreatic Adenocarcinoma, Bipul Gnyawali, Christina E. Borchers, Sarah Doell, Katherine House

Dermatology Faculty Publications

Disseminated intravascular coagulopathy (DIC) is the widespread deposition of thrombin and fibrin in microvascular circulation. It is a condition in which clots form throughout the body leading to blockage of small blood vessels. The pathologic clotting in DIC is due to the consumption of coagulation factors and platelets. Patients can present with complications of bleeding or vascular thrombi. Most common causes of DIC include sepsis, malignancy, pregnancy complications, major trauma, and surgery.


Svanna: Efficient And Accurate Pathogenicity Prediction Of Coding And Regulatory Structural Variants In Long-Read Genome Sequencing., Daniel Danis, Julius O B Jacobsen, Parithi Balachandran, Qihui Zhu, Feyza Yilmaz, Justin Reese, Matthias Haimel, Gholson J Lyon, Ingo Helbig, Christopher J Mungall, Christine R Beck, Charles Lee, Damian Smedley, Peter N Robinson Apr 2022

Svanna: Efficient And Accurate Pathogenicity Prediction Of Coding And Regulatory Structural Variants In Long-Read Genome Sequencing., Daniel Danis, Julius O B Jacobsen, Parithi Balachandran, Qihui Zhu, Feyza Yilmaz, Justin Reese, Matthias Haimel, Gholson J Lyon, Ingo Helbig, Christopher J Mungall, Christine R Beck, Charles Lee, Damian Smedley, Peter N Robinson

Faculty Research 2022

Structural variants (SVs) are implicated in the etiology of Mendelian diseases but have been systematically underascertained owing to sequencing technology limitations. Long-read sequencing enables comprehensive detection of SVs, but approaches for prioritization of candidate SVs are needed. Structural variant Annotation and analysis (SvAnna) assesses all classes of SVs and their intersection with transcripts and regulatory sequences, relating predicted effects on gene function with clinical phenotype data. SvAnna places 87% of deleterious SVs in the top ten ranks. The interpretable prioritizations offered by SvAnna will facilitate the widespread adoption of long-read sequencing in diagnostic genomics. SvAnna is available at https://github.com/TheJacksonLaboratory/SvAnn a …


Coronavirus Update 4-28-22, The Coronavirus Planning Team Apr 2022

Coronavirus Update 4-28-22, The Coronavirus Planning Team

University Briefings & Virtual Events

With the semester coming to a close, there are a few things we wanted to share with you about testing. This week will be the last week of mandatory testing.


How Autism Spectrum Disorder And Food Security Are Correlated With Childhood Affection And Mental Health In The United States: Results From The 2019 National Survey Of Children’S Health, Nicola Calabrese Apr 2022

How Autism Spectrum Disorder And Food Security Are Correlated With Childhood Affection And Mental Health In The United States: Results From The 2019 National Survey Of Children’S Health, Nicola Calabrese

Sociology & Anthropology Student Scholarship

Nicola Calabrese ’22
Major: Elementary and Special Education
Minor: Sociology
Faculty Mentor: Dr. Brandon Martinez, Sociology

This study examines the relationship between autism and mental health as well as affection rates amongst children. I analyze data from the 2019 National Survey of Children’s Health, a nationally representative sample of children aged 0 to 17, which was collected by the US Census Bureau. Multivariate binary logistic models reveal that children with autism are significantly less likely to be affectionate toward others. I also find that children diagnosed with autism are significantly more likely to be diagnosed with anxiety and depression, even …


Integrative Music Therapy: A Healing Intervention For Children With Disabilities, Francesca N. Do Apr 2022

Integrative Music Therapy: A Healing Intervention For Children With Disabilities, Francesca N. Do

Theses and Graduate Projects

Children with developmental delays have barriers to accessing early interventions to help develop their childhood milestones. An accessible intervention considered a universal language to all cultures is integrative music therapy. Music therapy paired with in-home care can create a healing environment for children to learn developmental skills, initiate play, and express their emotions with the nurse’s guidance. An integrative music therapy educational program was developed using Jean Watson’s Theory of Human Caring as a theoretical framework for the pediatric nurses working in a rural Midwest home health care company. The goal of the educational program is to promote awareness of …


Covid-19 Case Complicated With Organizing Pneumonia And Pneumothorax: A Case Report, Tammy E. Phillips, Hammad A. Bhatti, Minh Q. Ho Apr 2022

Covid-19 Case Complicated With Organizing Pneumonia And Pneumothorax: A Case Report, Tammy E. Phillips, Hammad A. Bhatti, Minh Q. Ho

The University of Louisville Journal of Respiratory Infections

Organizing pneumonia can be idiopathic or caused by multiple etiologies, including viral or bacterial pneumonia, drugs, and autoimmune disorders. It can rarely lead to cyst formation and pneumothorax with the exact mechanism remaining unclear. This case presents a previously healthy 50-year-old male who contracted COVID-19 with subsequent development of organizing pneumonia and pneumothorax. Patients presenting with hypoxic respiratory failure due to COVID-19 should be screened for organizing pneumonia upon discharge. This case also illustrates the importance of following such patients radiologically to monitor interstitial lung disease and consider pneumothorax for patients re-presenting with acute symptoms.


Advantages Of Early Utilization Of Palliative Care In The Pediatric Icu: A Scoping Review, Shelby Noel Cain Bsn, Rn, Cpn, Dana Pabalate Zimmerman Msn, Rn, Charis Elizabeth Oji Msn, Aprn, Cpnp-Pc/Ac, Michelle Rickard Dnp, Cpnp-Ac Apr 2022

Advantages Of Early Utilization Of Palliative Care In The Pediatric Icu: A Scoping Review, Shelby Noel Cain Bsn, Rn, Cpn, Dana Pabalate Zimmerman Msn, Rn, Charis Elizabeth Oji Msn, Aprn, Cpnp-Pc/Ac, Michelle Rickard Dnp, Cpnp-Ac

Doctor of Nursing Practice Projects

Abstract Purpose/Background Despite the increased use of palliative care in adults, only a tiny percentage of children with life-limiting illnesses or life-threatening conditions receive palliative care before dying. Palliative care has low utilization, and consults are often made late in a child’s hospitalization or diagnosis. Palliative care remains underutilized among hospitalized pediatric patients resulting in unnecessary treatments, costly and lengthy hospitalizations, and deaths occurring in the intensive care unit (ICU) rather than at home. The purpose of this scoping review is to evaluate current literature to determine the use and effect of pediatric palliative care, specifically, whether consultation of palliative …


La Discapacidad En Los Sistemas De Educación En Bolivia Y Chile, Kree Pace Apr 2022

La Discapacidad En Los Sistemas De Educación En Bolivia Y Chile, Kree Pace

Departmental Honors & Graduate Capstone Projects

The flawed approach to the education of disabled students is an issue that plagues countless countries across the globe, and those in Latin America are no different. Bolivia and Chile are two vastly different countries from a cultural and economic perspective. However, one issue that they have in common is the manner in which they attempt to teach disabled students. There are two major models of disability; social and medical. The social model teaches that disabilities are not inherently negative traits to have, and that those who have them should be supported by society. It also emphasizes that the organization …


Age Moderates The Effect Of Injury Severity On Functional Trajectories In Traumatic Brain Injury: A Study Using The Nidilrr Traumatic Brain Injury Model Systems National Dataset., Laraine Winter, Janell L Mensinger, Helene J Moriarty, Keith M Robinson, Michelle Mckay, Benjamin E Leiby Apr 2022

Age Moderates The Effect Of Injury Severity On Functional Trajectories In Traumatic Brain Injury: A Study Using The Nidilrr Traumatic Brain Injury Model Systems National Dataset., Laraine Winter, Janell L Mensinger, Helene J Moriarty, Keith M Robinson, Michelle Mckay, Benjamin E Leiby

Department of Pharmacology and Experimental Therapeutics Faculty Papers

Age is a risk factor for a host of poor outcomes following traumatic brain injury (TBI), with some evidence suggesting that age is also a source of excess disability. We tested the extent to which age moderates the effect of injury severity on functional trajectories over 15 years post injury. Data from 11,442 participants from the 2020 National Institute of Disability and Independent Living Rehabiitation Research (NIDILRR) Traumatic Brain Injury Model Systems (TBIMS) National Dataset were analyzed using linear mixed effects models. Injury severity was operationally defined using a composite of Glasgow Coma Scale scores, structural imaging findings, and the …


Heterozygous Frameshift Variants In Hnrnpa2b1 Cause Early-Onset Oculopharyngeal Muscular Dystrophy, Hong Joo Kim, Payam Mohassel, Sandra Donkervoort, Lin Guo, Kevin O'Donovan, Maura Coughlin, Xaviere Lornage, Nicola Foulds, Simon R Hammans, A Reghan Foley, Charlotte M Fare, Alice F Ford, Masashi Ogasawara, Aki Sato, Aritoshi Iida, Pinki Munot, Gautam Ambegaonkar, Rahul Phadke, Dominic G O'Donovan, Rebecca Buchert, Mona Grimmel, Ana Töpf, Irina T Zaharieva, Lauren Brady, Ying Hu, Thomas E Lloyd, Andrea Klein, Maja Steinlin, Alice Kuster, Sandra Mercier, Pascale Marcorelles, Yann Péréon, Emmanuelle Fleurence, Adnan Manzur, Sarah Ennis, Rosanna Upstill-Goddard, Luca Bello, Cinzia Bertolin, Elena Pegoraro, Leonardo Salviati, Courtney E French, Andriy Shatillo, F Lucy Raymond, Tobias B Haack, Susana Quijano-Roy, Johann Böhm, Isabelle Nelson, Tanya Stojkovic, Teresinha Evangelista, Volker Straub, Norma B Romero, Jocelyn Laporte, Francesco Muntoni, Ichizo Nishino, Mark A Tarnopolsky, James Shorter, Carsten G Bönnemann, J Paul Taylor Apr 2022

Heterozygous Frameshift Variants In Hnrnpa2b1 Cause Early-Onset Oculopharyngeal Muscular Dystrophy, Hong Joo Kim, Payam Mohassel, Sandra Donkervoort, Lin Guo, Kevin O'Donovan, Maura Coughlin, Xaviere Lornage, Nicola Foulds, Simon R Hammans, A Reghan Foley, Charlotte M Fare, Alice F Ford, Masashi Ogasawara, Aki Sato, Aritoshi Iida, Pinki Munot, Gautam Ambegaonkar, Rahul Phadke, Dominic G O'Donovan, Rebecca Buchert, Mona Grimmel, Ana Töpf, Irina T Zaharieva, Lauren Brady, Ying Hu, Thomas E Lloyd, Andrea Klein, Maja Steinlin, Alice Kuster, Sandra Mercier, Pascale Marcorelles, Yann Péréon, Emmanuelle Fleurence, Adnan Manzur, Sarah Ennis, Rosanna Upstill-Goddard, Luca Bello, Cinzia Bertolin, Elena Pegoraro, Leonardo Salviati, Courtney E French, Andriy Shatillo, F Lucy Raymond, Tobias B Haack, Susana Quijano-Roy, Johann Böhm, Isabelle Nelson, Tanya Stojkovic, Teresinha Evangelista, Volker Straub, Norma B Romero, Jocelyn Laporte, Francesco Muntoni, Ichizo Nishino, Mark A Tarnopolsky, James Shorter, Carsten G Bönnemann, J Paul Taylor

Department of Biochemistry and Molecular Biology Faculty Papers

Missense variants in RNA-binding proteins (RBPs) underlie a spectrum of disease phenotypes, including amyotrophic lateral sclerosis, frontotemporal dementia, and inclusion body myopathy. Here, we present ten independent families with a severe, progressive muscular dystrophy, reminiscent of oculopharyngeal muscular dystrophy (OPMD) but of much earlier onset, caused by heterozygous frameshift variants in the RBP hnRNPA2/B1. All disease-causing frameshift mutations abolish the native stop codon and extend the reading frame, creating novel transcripts that escape nonsense-mediated decay and are translated to produce hnRNPA2/B1 protein with the same neomorphic C-terminal sequence. In contrast to previously reported disease-causing missense variants in HNRNPA2B1, these frameshift …


The Effects Of A Dynamic Warm-Up On Low-Dye Taping In Pronated Participants, Trevor Daniel Aukerman Apr 2022

The Effects Of A Dynamic Warm-Up On Low-Dye Taping In Pronated Participants, Trevor Daniel Aukerman

Masters Projects

Context: The low-dye taping (LDT) is a commonly used method that is intended to prevent overpronation and support the medial longitudinal arch (MLA) of the foot. There is limited investigation into the effectiveness of the LDT after dynamic, multiplanar exercises, and if the LDT’s effectiveness is affected by the degree of foot pronation.

Objective: Determine if the LDT is effective after a dynamic warm-up and if the degree of the taping’s effectiveness is changed with the severity of foot pronation.

Design: Cross-sectional study

Setting: Multipurpose court

Patients or Other Participants: Thirty-four participants (26 women, 8 men; age=21.4±1.9; height=167.0±9.0cm, weight=67.6±14.3kg) with …


Blood Flow Restriction And Various Intensity Exercise In The Upper Extremity, Noelle Ashlyn Kaminski, Andrew Lowe Apr 2022

Blood Flow Restriction And Various Intensity Exercise In The Upper Extremity, Noelle Ashlyn Kaminski, Andrew Lowe

Masters Theses

Purpose: To determine if using Blood Flow Restriction (BFR) combined with low-load exercise can elicit an increase in strength and tendon size of the distal biceps tendon when compared to high-load exercise protocol. Methods: Twenty-one participants (11 M, 10 F; 2 Left-handed: 19 Right-handed; Age range 18-25yoa) were randomized to either the treatment group (BFR + low load exercise) or the control group (high load exercise). Participants were enrolled in a 7-week exercise protocol, with exercise sessions held twice weekly. The first week included measurements of each participant's 1 repetition maximum (1RM) and ultrasound measurements of the dominant distal bicep’s …