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2020

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Articles 5581 - 5610 of 20659

Full-Text Articles in Medicine and Health Sciences

Item Bank Development And Testing Of The Perioperative Non-Opioid Modalities (Pnom) Questionnaire: A Pilot Study, Austin Tucker Rn, Bsn, Dnp(C), James Wong Rn, Bsn, Dnp(C) Aug 2020

Item Bank Development And Testing Of The Perioperative Non-Opioid Modalities (Pnom) Questionnaire: A Pilot Study, Austin Tucker Rn, Bsn, Dnp(C), James Wong Rn, Bsn, Dnp(C)

Grace Peterson Nursing Research Colloquium

Abstract

Background: There are validated tools available to identify surgical patients at risk of persistent opioid use, as well as protocols to decrease perioperative opioid use. However, there are no validated tools to assess the barriers and facilitators to using non-opioid modalities for the treatment of perioperative pain.

Objective: The purpose of this study was to develop the item bank for a new instrument entitled the Perioperative Non-Opioid Modalities (PNOM) questionnaire and examine its initial psychometric properties. The PNOM was designed to examine the barriers, moderators, and facilitators surrounding the nurse anesthetists' use of non-opioid modalities for the treatment of …


Correlation Of Mobile Device Application Use During Student Registered Nurse Anesthetist Training And First Time Nce Pass Rates, Morgan Lewis, Garrett Sawyer Aug 2020

Correlation Of Mobile Device Application Use During Student Registered Nurse Anesthetist Training And First Time Nce Pass Rates, Morgan Lewis, Garrett Sawyer

Grace Peterson Nursing Research Colloquium

No abstract provided.


Medical Cannabis: Knowledge, Beliefs And Attitudes Of Certified Registered Nurse Anesthetists, Adam Conlon Aug 2020

Medical Cannabis: Knowledge, Beliefs And Attitudes Of Certified Registered Nurse Anesthetists, Adam Conlon

Grace Peterson Nursing Research Colloquium

Medical Cannabis: Knowledge, Beliefs and Attitudes of Certified Registered Nurse Anesthetists

Student:Adam Conlon RN, BSN

Faculty Sponsor: Kathryn Coletto DNP, CRNA, APN

Abstract Patients who require anesthesia may have a history of using medical cannabis (MC). Illinois has had a MC program since 2013 and legalized recreational use on January 1, 2020. Certified Registered Nurse Anesthetists (CRNA) and Student Registered Nurse Anesthetists (SRNAs) in Illinois need to be adept at discussing MC with their patients and understand how this class of medication affects anesthesia. Multi-modal approaches to control pain are becoming the standard of care inside and outside of the …


Impact Of Implementing Delirium Precautions On Pharmacological And Non-Pharmacological Interventions In A Veteran Inpatient Hospice Population, Zoe Palisoc, Kevin Bacigalupo, Emily Ellsworth, Seema Limaye, Kavita Palla, Katie J. Suda, Joyce M. Wang Aug 2020

Impact Of Implementing Delirium Precautions On Pharmacological And Non-Pharmacological Interventions In A Veteran Inpatient Hospice Population, Zoe Palisoc, Kevin Bacigalupo, Emily Ellsworth, Seema Limaye, Kavita Palla, Katie J. Suda, Joyce M. Wang

Grace Peterson Nursing Research Colloquium

Retrospective Study from July 2017 thru January 2019 on United States veteran admitted to Edward Hines Jr. Veterans Medical Center's inpatient hospice unit who developed terminal delirium on their last days of life.


Optimal Time Repair Of Ventricular Septal Rupture Post Myocardial Infarction, Ibrahim Shafiei, Fatemeh Jannati, Mansour Jannati Aug 2020

Optimal Time Repair Of Ventricular Septal Rupture Post Myocardial Infarction, Ibrahim Shafiei, Fatemeh Jannati, Mansour Jannati

Journal of the Saudi Heart Association

Ventricular septal rupture (VSR) is an uncommon complication of myocardial infarction (MI). The mortality rate of VSR is high. The management of VSR is including the stabilization of the hemodynamic status and surgical closure of the rupture. In spite of the agreement of experts on the necessity of surgical repair, the timing of VSR repair management remains unclear. In this review article, we evaluate the optimal time repair of VSR. To collect the data, Pubmed, EMBASE, and Cochrane Central Registry databases were searched for potentially suitable studies. Search terms were including “Ventricular Septal Rupture”, “Myocardial Infarction”, “Timing”, and “MI”. According …


2020-08-06_Michiganoverview_Covidbedppe, Michigan Department Of Health & Human Services Aug 2020

2020-08-06_Michiganoverview_Covidbedppe, Michigan Department Of Health & Human Services

Michigan COVID-19 Hospital Data

The webpage was obtained from Michigan's Coronavirus Cumulative Data page, under the link Data About Places. Data is self-reported by hospitals daily to the EM Resource System per MDHHS Director Robert Gordon's Emergency Order.

Contains the tables Statewide Hospital Capacity Report for COVID-19, COVID-19 Metrics, Statewide Hospital Available PPE Tracking for COVID-19, as well as the tables PPE Days On Hand and Patient Census.


Barrett's Esophagus, Laura Hickey Aug 2020

Barrett's Esophagus, Laura Hickey

Nursing Student Class Projects (Formerly MSN)

The incidence of esophageal cancer, a deadly cancer, is rising and the only known precursor is Barrett’s esophagus. Barrett’s esophagus is a condition in which mucosa undergo progressive multi-step cellular changes. Currently, the exact pathogenesis is uncertain, but likely occurs from chronic reflux of acid and bile in the distal esophagus. Understanding the limited pathology of Barrett’s esophagus guides screening, surveillance, diagnosis and treatment. The current focus, though guidelines vary, recommends screening those at highest risk of developing Barrett’s: Caucasian males, over the age of 50, with central obesity, gastroesophageal reflux disease, a history of smoking and a familial history …


Pathophysiology Of Diabetes Mellitus, Nancy Rozzo Aug 2020

Pathophysiology Of Diabetes Mellitus, Nancy Rozzo

Nursing Student Class Projects (Formerly MSN)

“Diabetes mellitus is the seventh leading cause of death in the United States. In the past twenty years, the number of people diagnosed with diabetes has doubled” (CDC, 2020). Diabetes affects many people and if not diagnosed early, or managed appropriately, can lead to other health complications involving the heart and kidneys, leading to blindness and even a possible stroke. The three main types of diabetes are: type 1, type 2, or gestational diabetes. Currently, there are 34.2 million adults in the United States that have diabetes, and 1 in 5 of them do not know they have it (CDC, …


Cardiovascular Disease, Samantha Kohler Aug 2020

Cardiovascular Disease, Samantha Kohler

Nursing Student Class Projects (Formerly MSN)

The purpose of the presentation is to expand on cardiovascular disease and the pathophysiology contributing to the disease process. The presentation allows for further education on modifiable risk factors, and the most common causes of cardiovascular disease. Cardiovascular disease is one of the main causes of death in the world (Najafipour, Afshari & Rostamzadeh, 2018). When diagnosing patients with cardiovascular disease they often have more than one modifiable risk factor. The modifiable risk factors are hypertension, diabetes, high cholesterol, obesity, smoking, and low physical activity (Najafipour et al., 2018). The purpose of the arteries of the heart is to provide …


Acute Pancreatitis, Noah Prebish Aug 2020

Acute Pancreatitis, Noah Prebish

Nursing Student Class Projects (Formerly MSN)

The continents of the poster are the result of a literature search that was conducted to find the most up to date information on various aspects of acute pancreatitis. Acute pancreatitis can be categorized as mild, moderate and severe cases. Mild and moderate cases of acute pancreatitis usually subside spontaneously and have no residual effects on patients. Severe acute pancreatitis is a potentially life-threatening disorder that results in the autodigestion of the pancreas. Autodigestion of the pancreas causes a systemic inflammatory response that usually results in rapid deterioration of patient’s hemodynamic status. Severe pancreatitis often leads to long hospital stays …


Bacterial Vaginosis, Margaret Howard Aug 2020

Bacterial Vaginosis, Margaret Howard

Nursing Student Class Projects (Formerly MSN)

Bacterial Vaginosis (BV) is the most common cause of vaginal infections in women of reproductive age, with a prevalence of 29% in women ages 14- 49 in the United States (Center for Disease Control {CDC}, 2020). The exact pathogenesis of BV is unclear; however, several risk factors such as having unprotected sex, multiple new sexual partners, or frequent douching can lead to BV (Afolabi et al., 2016). Women diagnosed with BV have an increased risk of contracting sexually transmitted infections (STIs), such as human immunodeficiency virus (HIV), gonorrhea, and chlamydia. BV is associated with health concerns such as miscarriages, preterm …


2020-08-06_Michigandaily_Covidmap, Michigan Department Of Health & Human Services Aug 2020

2020-08-06_Michigandaily_Covidmap, Michigan Department Of Health & Human Services

Daily Michigan COVID-19 Update

The "WHERE WE STAND WITH COVID-19" map was obtained from Michigan's main COVID-19 page: https://www.michigan.gov/coronavirus. Data was compiled by the Michigan Department of Health and Human Services (MDHHS). The information was updated daily at 3p.m., Monday - Saturday.

The State of Michigan is working around the clock to test and treat COVID-19 patients. Below is the most recent data healthcare experts across the state have compiled.

The image contained a map, indicating total cases by county, and also provides statistics on Total Confirmed Cases, Total COVID-19 Deaths, Daily Confirmed Cases, and Daily COVID-19 Deaths. There …


2020-08-06_Michiganoverview_Covidlongtermcare, Michigan Department Of Health & Human Services Aug 2020

2020-08-06_Michiganoverview_Covidlongtermcare, Michigan Department Of Health & Human Services

Michigan COVID-19 Long Term Care Data

The COVID Long Term Care Facilities page was obtained from Michigan's COVID-19 data page: https://www.michigan.gov/coronavirus/0,9753,7-406-98163_98173-526911--,00.html.

This report is created by the Michigan Department of Health & Human Services from data self-reported by long-term care facilities into EMResource. Data is updated on an ongoing basis.

The data below represents a cumulative total of confirmed COVID-19 resident cases, cumulative total of suspected and confirmed resident deaths, cumulative total of confirmed COVID-19 staff cases, and cumulative total of suspected and confirmed staff deaths reported by SNFs in Michigan since January 1, 2020. Case numbers are provisional and may change as facilities correct …


2020-08-06_Michiganoverview_Covidstats, Michigan Department Of Health & Human Services Aug 2020

2020-08-06_Michiganoverview_Covidstats, Michigan Department Of Health & Human Services

Cumulative Michigan COVID-19 Data

The COVID Overview page was obtained from Michigan's main COVID-19 page: https:/www.michigan.gov/coronavirus/0,9753,7-406-98163-520743--,00.html.

This report is provisional and subject to change. City of Detroit and Wayne County are reported separately. MDHHS began tracking probable cases April 5, 2020. FCI indicates federal correctional institute. MDOC indicates Michigan Department of Corrections. Diagnostic tests, including nucleic acid amplification/real-time polymerase chain reaction (NAAT/RT-PCR) and rapid virus antigen detection point of care (POC) tests, look for current infection. Serology (antibody) tests are used to look for the possibility of previous infection.
Source: Michigan Disease Surveillance System (MDSS) and Vital Records

The website contained the tables …


Ptsd And Depressive Symptoms As Potential Mediators Of The Association Between World Trade Center Exposure And Subjective Cognitive Concerns In Rescue/Recovery Workers, Ankura Singh, Rachel Zeig-Owens, Laura Rabin, Theresa Schwartz, Mayris P. Webber, David Appel, David J. Prezant, Charles B. Hall Aug 2020

Ptsd And Depressive Symptoms As Potential Mediators Of The Association Between World Trade Center Exposure And Subjective Cognitive Concerns In Rescue/Recovery Workers, Ankura Singh, Rachel Zeig-Owens, Laura Rabin, Theresa Schwartz, Mayris P. Webber, David Appel, David J. Prezant, Charles B. Hall

Publications and Research

We observed that World Trade Center (WTC) exposure, post-traumatic stress disorder (PTSD) symptoms and depressive symptoms were associated with subjective cognitive concerns in Fire Department of the City of New York (FDNY) rescue/recovery workers. This follow-up study examined whether PTSD symptoms and/or depressive symptoms mediate the observed association between WTC exposure and subjective cognitive concerns. We included WTC-exposed FDNY workers who completed the Cognitive Function Instrument (CFI), measuring self-perceived cognitive decline (N = 9516). PTSD symptoms and depressive symptoms were assessed using the PCL-S and CES-D, respectively. Multivariable linear regression estimated the association between WTC exposure and CFI score, adjusting …


Cerebral Palsy, Carly Jones Aug 2020

Cerebral Palsy, Carly Jones

Nursing Student Class Projects (Formerly MSN)

Cerebral Palsy (CP) as a heterogeneous condition with various types, causes, and patterns of neuropathology that all result in a disorder of posture and movement control. The most common etiologies of CP are usually congenital in nature meaning they begin in early pregnancy and happen before birth (MacLennan et. Al, 2015). However, there are still unknown causes of CP and it is now important to consider other etiologies that trigger different neuropathologies that contribute to varying symptoms of CP. Understanding the pathophysiology, causes, and signs and symptoms of CP can help facilitate appropriate treatment and therapies for improvement of function.


Ultrasound-Guided Peripheral Intravenous Catheter Insertion For Nurse Practitioners, Alvin Joseph Abad Aug 2020

Ultrasound-Guided Peripheral Intravenous Catheter Insertion For Nurse Practitioners, Alvin Joseph Abad

Doctor of Nursing Practice (DNP) Projects

Problem

Intravenous (IV) catheter insertion is a necessary skill in the emergency department (ED) for indications such as medications, fluids, and blood transfusions. Occasionally, patients present with difficult IV access (DIVA), requiring multiple insertion attempts and central venous catheter (CVC) placements. Due to the invasive nature of these procedures, patients can experience a great deal of pain and discomfort. Furthermore, although CVCs are necessary in critically ill patients that require hemodynamic monitoring or vasopressor infusions, they can cause several problems. For instance, central-line associated blood stream infections are some of the most common complications and result in increased costs and …


Optimizing Screening Mammography: Educating Underserved Individuals With Limited English Proficiency, Yao Luo Aug 2020

Optimizing Screening Mammography: Educating Underserved Individuals With Limited English Proficiency, Yao Luo

Doctor of Nursing Practice (DNP) Projects

Problems: Culture and language may create huge barriers to the delivery of high-quality care for patients with Limited English Proficiency (LEP) who are seeking breast cancer care, especially in a population that consists of a large proportion of disadvantaged, low income, low English literacy, and high-risk women over 45 years of age.

Context: LEP patients’ inability to effectively communicate and inadequate knowledge about screening mammography have put them at great risk of receiving additional images during the exam, as well as brought a huge burden to technologists regarding breast positioning.

Interventions: A Doctor of Nursing Practice project was implemented to …


Oral Cancer: Clinicopathological Features And Associated Risk Factors In A High Risk Population Presenting To A Major Tertiary Care Center In Pakistan, Namrah Anwar, Shahid Pervez, Qurratulain Chundriger, Mohammad Sohail Awan, Tariq Moatter, Tazeen Saeed Ali Aug 2020

Oral Cancer: Clinicopathological Features And Associated Risk Factors In A High Risk Population Presenting To A Major Tertiary Care Center In Pakistan, Namrah Anwar, Shahid Pervez, Qurratulain Chundriger, Mohammad Sohail Awan, Tariq Moatter, Tazeen Saeed Ali

Department of Pathology and Laboratory Medicine

Oral squamous cell carcinoma (OSCC) has the highest prevalence in head and neck cancers and is the first and second most common cancer in males and females of Pakistan respectively. Major risk factors include peculiar chewing habits like areca nut, betel quid, and tobacco. The majority of OSCC presents at an advanced stage with poor prognosis. On the face of such a high burden of this preventable cancer, there is a relative lack of recent robust data and its association with known risk factors from Pakistan. The aim of this study was to identify the socioeconomic factors and clinicopathological features …


Feeding And Swallowing Development In Children, Lauren Kaiser, Taeok Park Aug 2020

Feeding And Swallowing Development In Children, Lauren Kaiser, Taeok Park

Graduate Independent Studies - Communication Sciences and Disorders

The feeding and swallowing developments are involved in maturation of anatomy, food textures, and utensils. As children grow, the dependence of feeding moves to self-feeding. Understanding and educating individuals about feeding and swallowing development is critical. The knowledge of feeding and swallowing development can help parents support nutrition and growth in their children by learning timelines and normal feeding and swallowing expectations. This project is to provide clinical resources in order to assist in providing proper care for patients, recognizing signs demonstrating difficulty swallowing, and implementing appropriate self-feeding and consistency development timetables. Caregivers and clinicians will benefit from this information.


Workplace Violence In The Emergency Department: Screening With The Stamp Assessment, Adrienne Wilson Aug 2020

Workplace Violence In The Emergency Department: Screening With The Stamp Assessment, Adrienne Wilson

MSN Capstone Projects

Health care workers experience significantly more injuries at work due to violence than workers in all other industries, with a particularly higher risk to health care workers in Emergency Departments (EDs) (Copeland & Henry, 2017, p. 65). Following a violent event, 94% of nurses experienced one or more symptoms of post-traumatic stress disorder, which have a significant relationship with work productivity (Gates et al., 2011, p. 59). Workplace violence (WPV) events are linked to poor staff retention, poor quality of care, increased staff burnout, and patient/visitor dissatisfaction (Renker et al., 2013).

These issues can be addressed with a simple screening …


Depression In Primary Care: With A Focus On First-Line Medications, Michael Danielewicz, Md Aug 2020

Depression In Primary Care: With A Focus On First-Line Medications, Michael Danielewicz, Md

Department of Family & Community Medicine Presentations and Grand Rounds

This Lecture Will Cover:

  • An overview of selective serotonin reuptake inhibitors (SSRIs), serotonin-norepinephrine reuptake inhibitors (SNRIs), bupropion and mirtazapine
  • Appropriate selection and dose adjustments of first-line agents for depressive disorders in a primary care setting
  • Monitoring and tapering first-line antidepressants
  • Special considerations in treatment
  • Future directions for antidepressant treatment


How Does The Effect Of Hurricane Katrina Influence Healthcare Infrastructure And Resilience?, Sean Y. Wei Aug 2020

How Does The Effect Of Hurricane Katrina Influence Healthcare Infrastructure And Resilience?, Sean Y. Wei

University Honors Theses

In August 2005, Hurricane Katrina brought upon the city of New Orleans, LA one of the costliest natural disasters in U.S. history. This paper looks at how hospitals were prepared before Katrina, responded to, and grappled with the aftermath of this natural disaster. In the aftermath of Katrina, careful investigation of the healthcare system along with its hospitals, physicians, patients, and residents allow us to take innovative measures and provide guidance to create recommendations to better monitor and care for individuals in the future. Frameworks of resilience theories, studies, and recommendations display how and why disaster planning is essential. The …


The Intersection Between Sexual Assault And Mental Illness: Psychiatric Nurse’S Role, Shylettera Davis, Leslie Miles, Julie Valentine, Linda Mabey Aug 2020

The Intersection Between Sexual Assault And Mental Illness: Psychiatric Nurse’S Role, Shylettera Davis, Leslie Miles, Julie Valentine, Linda Mabey

Student Works

The Intersection between Sexual Assault and Mental Illness: Psychiatric Nurse’s Role

Shylettera Davis

College of Nursing, BYU

Master of Science

Background: Mental illness (MI) affects one in five Americans. Individuals with severe MI are frequently victims of crime, which includes sexual assault (SA). It is well established that individuals with severe MI are more vulnerable for SA victimization. What is not recognized is if this vulnerability for SA extends to other less serious types of MI.

Aim: To identify and synthesize findings from the literature for any connections between having a MI and increased vulnerability for SA victimization, specific mental …


Reduction Of Falls Through The Utilization Of Education, Ashley Eckert Bsn, Rn, Carley Cunningham Bsn, Rn, Shay Gimbel Adn, Rn, Olivia Hauger Bsn, Rn Aug 2020

Reduction Of Falls Through The Utilization Of Education, Ashley Eckert Bsn, Rn, Carley Cunningham Bsn, Rn, Shay Gimbel Adn, Rn, Olivia Hauger Bsn, Rn

Patient Care Services / Nursing

No abstract provided.


Soluble Neprilysin And Long-Term Clinical Outcomes In Patients With Coronary Artery Disease Undergoing Percutaneous Coronary Intervention: A Retrospective Cohort Study, Ik Jun Choi, Sungmin Lim, Youngdeok Hwang, Dongjae Lee, Won Jik Lee, Kwan Yong Lee, Mi-Jeong Kim, Doo Soo Jeon Aug 2020

Soluble Neprilysin And Long-Term Clinical Outcomes In Patients With Coronary Artery Disease Undergoing Percutaneous Coronary Intervention: A Retrospective Cohort Study, Ik Jun Choi, Sungmin Lim, Youngdeok Hwang, Dongjae Lee, Won Jik Lee, Kwan Yong Lee, Mi-Jeong Kim, Doo Soo Jeon

Publications and Research

Background: Neprilysin has an essential role in regulating fluid balance and vascular resistance, and neprilysin inhibitors have shown beneficial effects in patients with heart failure. However, the potential predictive value of neprilysin levels as a biomarker for cardiovascular risk remains unclear. The aim of this study was to assess the prognostic value of soluble neprilysin (sNEP) levels in patients with ischemic heart disease.

Methods: Neprilysin levels were measured in 694 consecutive patients with coronary artery disease (CAD) undergoing percutaneous coronary intervention (PCI). These patients were classified into two groups according to their serum levels of neprilysin and categorized into the …


The Classification Accuracy Of A Dynamic Assessment Of Inferential Word Learning For School-Age Children With And Without Language Disorder, Britney Ann Newey Aug 2020

The Classification Accuracy Of A Dynamic Assessment Of Inferential Word Learning For School-Age Children With And Without Language Disorder, Britney Ann Newey

Theses and Dissertations

Purpose: This study examines the classification accuracy and interrater reliability of a dynamic assessment (DA) of inferential word learning designed to accurately identify kindergarten through sixth-grade students with and without language disorder. Method: The participants included 127 school-age children from a mountain west school district who were administered a DA of inferential word learning that entailed a pretest, a teaching phase, an examiner rating of the child's ability to infer word meaning (modifiability), and posttests. Results: Hierarchical logistic regression and receiver operator characteristic (ROC) analyses revealed that combining all posttests, the modifiability total, and the final examiner judgement scores from …


Agreement Of Program Directors With Clinical Competency Committees For Fellow Entrustment., Richard Mink, Bruce E. Herman, Carol Carraccio, Tandy Aye, Jeanne M. Baffa, Patricia R. Chess, Jill J. Fussell, Cary G. Sauer, Diane E J Stafford, Pnina Weiss, Megan L. Curran, Christiane E L Dammann, Pamela C. High, Deborah Hsu, Jennifer C. Kesselheim, John D. Mahan, Kathleen A. Mcgann, Angela Myers, Sarah Pitts, David A. Turner, Alan Schwartz Aug 2020

Agreement Of Program Directors With Clinical Competency Committees For Fellow Entrustment., Richard Mink, Bruce E. Herman, Carol Carraccio, Tandy Aye, Jeanne M. Baffa, Patricia R. Chess, Jill J. Fussell, Cary G. Sauer, Diane E J Stafford, Pnina Weiss, Megan L. Curran, Christiane E L Dammann, Pamela C. High, Deborah Hsu, Jennifer C. Kesselheim, John D. Mahan, Kathleen A. Mcgann, Angela Myers, Sarah Pitts, David A. Turner, Alan Schwartz

Manuscripts, Articles, Book Chapters and Other Papers

Objectives: Fellowship program directors (FPD) and Clinical Competency Committees (CCCs) both assess fellow performance. We examined the association of entrustment levels determined by the FPD with those of the CCC for 6 common pediatric subspecialty entrustable professional activities (EPAs), hypothesizing there would be strong correlation and minimal bias between these raters.

Methods: The FPDs and CCCs separately assigned a level of supervision to each of their fellows for 6 common pediatric subspecialty EPAs. For each EPA, we determined the correlation between FPD and CCC assessments and calculated bias as CCC minus FPD values for when the FPD was or was …


De Novo And Bi-Allelic Pathogenic Variants In Nars1 Cause Neurodevelopmental Delay Due To Toxic Gain-Of-Function And Partial Loss-Of-Function Effects, Andreea Manole, Marwan Shinawi, Marisa V. Andrews, Dustin Baldridge, John F. Mantovani, Et Al. Aug 2020

De Novo And Bi-Allelic Pathogenic Variants In Nars1 Cause Neurodevelopmental Delay Due To Toxic Gain-Of-Function And Partial Loss-Of-Function Effects, Andreea Manole, Marwan Shinawi, Marisa V. Andrews, Dustin Baldridge, John F. Mantovani, Et Al.

2020-Current year OA Pubs

Aminoacyl-tRNA synthetases (ARSs) are ubiquitous, ancient enzymes that charge amino acids to cognate tRNA molecules, the essential first step of protein translation. Here, we describe 32 individuals from 21 families, presenting with microcephaly, neurodevelopmental delay, seizures, peripheral neuropathy, and ataxia, with de novo heterozygous and bi-allelic mutations in asparaginyl-tRNA synthetase (NARS1). We demonstrate a reduction in NARS1 mRNA expression as well as in NARS1 enzyme levels and activity in both individual fibroblasts and induced neural progenitor cells (iNPCs). Molecular modeling of the recessive c.1633C>T (p.Arg545Cys) variant shows weaker spatial positioning and tRNA selectivity. We conclude that de novo and …


Education Documentation, Karen Bossert Rn, Nicolette Cunningham Bsn, Rn, Jessica Foley Bsn, Rn Aug 2020

Education Documentation, Karen Bossert Rn, Nicolette Cunningham Bsn, Rn, Jessica Foley Bsn, Rn

Patient Care Services / Nursing

No abstract provided.