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Full Issue: The International Undergraduate Journal Of Health Sciences, Volume 1, Issue 1, June 2021, 2021 Munster Technological University

Full Issue: The International Undergraduate Journal Of Health Sciences, Volume 1, Issue 1, June 2021

International Undergraduate Journal of Health Sciences

The full June 2021 issue (Volume 1, Issue 1) of the International Undergraduate Journal of Health Sciences


Utility Of Cognitive Behavioral Therapy To Reduce Pain In Children With Sickle Cell Disease, Abigail Radomsky 2021 Wayne State University

Utility Of Cognitive Behavioral Therapy To Reduce Pain In Children With Sickle Cell Disease, Abigail Radomsky

Clinical Research in Practice: The Journal of Team Hippocrates

A clinical decision report appraising:

Schatz J, Schlenz AM, McClellan CB, et al. Changes in coping, pain, and activity after cognitive-behavioral training. The Clinical Journal of Pain 2015;31(6):536-47 https://doi.org/10.1097/ajp.0000000000000183

for a child with sickle cell disease.


Luspatercept Diminishes The Need For Red Blood Cell Replacement In Transfusion-Dependent Β-Thalassemia Patients, Joudeh B. Freij 2021 Wayne State University School of Medicine

Luspatercept Diminishes The Need For Red Blood Cell Replacement In Transfusion-Dependent Β-Thalassemia Patients, Joudeh B. Freij

Clinical Research in Practice: The Journal of Team Hippocrates

A clinical decision report appraising:

Cappellini MD, Viprakasit V, Taher AT, et al. A phase 3 trial of luspatercept in patients with transfusion-dependent β-thalassemia. N Engl J Med. 2020;382(13):1219-1231. https://doi.org/10.1056/NEJMoa1910182

for a patient with transfusion-dependent beta-thalassemia.


Review Of Fetal Alcohol Spectrum Disorder (Fasd) Among Aboriginal And Torres Strait Islander People, Sharynne Hamilton, Michael Doyle, Carol Bower 2021 Telethon Kids Institute

Review Of Fetal Alcohol Spectrum Disorder (Fasd) Among Aboriginal And Torres Strait Islander People, Sharynne Hamilton, Michael Doyle, Carol Bower

Australian Indigenous HealthBulletin

Fetal Alcohol Spectrum Disorder (FASD) is a preventable, lifelong disability that disproportionately affects Aboriginal and Torres Strait Islander people. This review provides a comprehensive synthesis of the available information on FASD among Aboriginal and Torres Strait Islander people, with reference to the limitations on population-based data and evaluated programs. The review outlines; the harms of alcohol use in the context of colonisation, cultural perspectives on assessment and diagnosis, effective prevention programs and a summary of state and national policies. Health impacts, educational outcomes and the effects of FASD on vulnerable populations such as children in protection and young people in ...


Treatment Anxiety Education For Pediatric Cardiac Neurodevelopmental Patients, An Evidence Based Project, Mary Nagel 2021 University of San Diego

Treatment Anxiety Education For Pediatric Cardiac Neurodevelopmental Patients, An Evidence Based Project, Mary Nagel

Doctor of Nursing Practice Final Manuscripts

Abstract

Background

Congenital heart disease (CHD) is the most common birth defect and affects almost 1% of all live births. Treatment anxiety is common among children with CHD who undergo multiple procedures early in their lifetime. Dramatically increased life spans for this cardiac population has led to a shift from focusing on survival to their long-term health outcomes.

Methods:

Administration of the Peds QL Cardiac Module 3.0 assesses health related quality of life (HRQOL) during annual visits to a Cardiac Neurodevelopmental (ND) Clinic by evaluating the level of Treatment Anxiety a patient experiences during healthcare appointments. The questionnaire scores ...


Exploring Tactile Art-Making With Deafblind Students And Their Families: An Opportunity For Creative Play, Alice Rodgers 2021 Lesley University

Exploring Tactile Art-Making With Deafblind Students And Their Families: An Opportunity For Creative Play, Alice Rodgers

Expressive Therapies Capstone Theses

The impact of a deafblind diagnosis on an individual’s mental health and the well-being of the family involved can be profound. However, current research and available literature for the mental health treatment and therapy practices of deafblind persons and their families is limited (Kyzar et al., 2016; “WFDB Global Report 2018,” n.d.). This thesis used the Leeds Family Psychology and Therapy Service principles (Leeds FPTS) and the Expressive Therapies Continuum with established deafblind teaching strategies to facilitate an original arts-based community project entitled: “Things We Like.” This project provided an opportunity for deafblind students (ages three to 22 ...


Outcomes Of Infants With Severe Rop At Risk Of Treatment With Avastin Compared To Laser Surgery, Stephen Doxey 2021 Children's Mercy Kansas City

Outcomes Of Infants With Severe Rop At Risk Of Treatment With Avastin Compared To Laser Surgery, Stephen Doxey

Research Days

Background: Retinopathy of prematurity (ROP) is a well-known complication occurring in the most premature infants leading to visual impairment and in the most severe cases associated with retinal detachment and childhood blindness. Factors contributing the development of ROP include chronic hypoxia and disordered vascular genesis primarily through the vascular endothelial growth factor (VEGF) signaling pathway. Infants at risk of developing ROP are screened with serial eye exam and treated with either laser surgery or intraocular injects of bevacizumab (Avastin) to prevent progression of ROP and preserve vision. Bevacizumab, an inhibitor of VEGF signaling, may have positive effects on preventing ROP ...


Activation Of Aryl Hydrocarbon Receptor Signaling In Human Trophoblasts Alters Markers Of Growth And Differentiation, Asmaa Alsousi 2021 Children's Mercy Kansas City

Activation Of Aryl Hydrocarbon Receptor Signaling In Human Trophoblasts Alters Markers Of Growth And Differentiation, Asmaa Alsousi

Research Days

Background: It is estimated that 1.7% of pregnant women smoke during their pregnancy globally, with the highest levels observed in Europe at 8.1%, and lowest in Africa at 0.8. The association of maternal cigarette smoking with increased risk of poor birth outcomes such as preterm birth, congenital anomalies, and neonatal mortality is well-established. In addition, evidence suggests that intrauterine exposure to maternal smoking impacts the risk of developing diseases later in life; however, we still do not understand the exact mechanism(s) leading to these outcomes. Once components of cigarette smoke (CS) cross the placenta and enter ...


Tricuspid Atresia With Totally Anomalous Pulmonary Venous Connection: An Uncommon Finding, Anmol Goyal 2021 Children's Mercy Kansas City

Tricuspid Atresia With Totally Anomalous Pulmonary Venous Connection: An Uncommon Finding, Anmol Goyal

Research Days

Background: Tricuspid atresia comprises 3-4% of all congenital heart disease (CHD). Anatomic findings are no true connection between the right atrium (RA) and right ventricle (RV) with concomitant findings of a ventricular septal defect (VSD), right ventricular hypoplasia, abnormalities of right ventricular outflow tract, pulmonary valve and pulmonary arteries. Common associated lesions have been described including transposition of great vessels, hypoplasia of aortic arch, double outlet ventricle or a common arterial trunk. Total anomalous pulmonary venous connection (TAPVC) is relatively rare and we present a case in addition to the six previously described cases in literature.

Case: A 33-year-old woman ...


The Theory Of Maternal Administration Of Meclizine: An Achondroplasic Review And The Proposed Treatment Of Foramen Magnum Stenosis Within A Murine Model, Ava Perez Erickson 2021 Liberty University

The Theory Of Maternal Administration Of Meclizine: An Achondroplasic Review And The Proposed Treatment Of Foramen Magnum Stenosis Within A Murine Model, Ava Perez Erickson

Senior Honors Theses

Arising from mostly de novo mutations, achondroplasia (ACH) is one of the most common, non-lethal forms of chondrodysplasia. The short stature indicative of ACH stems from a gain of function mutation within the complex FGFR3 signaling pathway—mutations mitigating the too-rapid ossification of cartilage to bone. Meclizine, an FDA-approved drug long prescribed for motion sickness, halts such a conversion and allows the reconstitution of chondrodysplasia cell lines in attempts at following a normal growth pattern. Evinced by various cell line rescues as well as increased long bone growth, it can be hypothesized that maternally administered meclizine can rescue the ACH ...


Use Of Antisense Oligonucleotides To Target Notch2 In Mouse Chondrocytes, Gabrielle Viviana Lanza 2021 University of Connecticut

Use Of Antisense Oligonucleotides To Target Notch2 In Mouse Chondrocytes, Gabrielle Viviana Lanza

Honors Scholar Theses

NOTCH2 is a transmembrane receptor that is part of the Notch receptor family, known for controlling cell differentiation and function. Notch receptors play a crucial role in skeletal development and bone homeostasis. Hajdu Cheney Syndrome (HCS) is a rare monogenic disorder affecting the skeleton caused by a gain-of-function mutation in NOTCH2. Antisense oligonucleotides (ASO) are sequence-specific single-stranded nucleic acids that bind to target mRNA and initiate mRNA degradation. While previous work has explored the role of Notch2 ASOs in osteoblasts and osteoclasts, this paper explores the role of Notch2 and Notch2 ASOs in cells of cartilage tissue. The effect of ...


Prevalence Of Common Disease Conditions In A Large Cohort Of Individuals With Down Syndrome In The United States, Brian Chicoine, Anne Rivelli, Veronica Fitzpatrick, Laura Chicoine, Gengjie Jia, Andrey Rzhetsky 2021 Advocate Aurora Health

Prevalence Of Common Disease Conditions In A Large Cohort Of Individuals With Down Syndrome In The United States, Brian Chicoine, Anne Rivelli, Veronica Fitzpatrick, Laura Chicoine, Gengjie Jia, Andrey Rzhetsky

Journal of Patient-Centered Research and Reviews

Purpose: Given the current life expectancy and number of individuals living with Down syndrome (DS), it is important to learn common occurrences of disease conditions across the developmental lifespan. This study analyzed data from a large cohort of individuals with DS in an effort to better understand these disease conditions, inform future screening practices, tailor medical care guidelines, and improve utilization of health care resources.

Methods: This retrospective, descriptive study incorporated up to 28 years of data, compiled from 6078 individuals with DS and 30,326 controls matched on age and sex. Data were abstracted from electronic medical records within ...


Genomic Education – Bench To Bedside: A Novel Approach To Teaching Genetic Diagnosis, J. Keith Williams, Michael M. Segal, Lynn K. Feldman 2021 Nova Southeastern University, Ft. Lauderdale

Genomic Education – Bench To Bedside: A Novel Approach To Teaching Genetic Diagnosis, J. Keith Williams, Michael M. Segal, Lynn K. Feldman

Internet Journal of Allied Health Sciences and Practice

Problem: Teaching genetic diagnosis is required in all medical schools and physician assistant programs. However, with thousands of relevant findings and thousands more rare diseases, lectures and narrative resources are inadequate for the task. Whatever information that is taught is easily forgotten and does not carry over into the clinic. Many rare disease patients suffer through “diagnostic odysseys” (3 to 30 years to correct diagnosis). Approach: We used a commercially available diagnostic decision support system (DDSS) that encompasses all Mendelian disorders with known genes, together with other conditions in their differential diagnosis, and a case-based educational approach to teach diagnostic ...


Dnp Final Report: Breaking The Cycle: Care Coordination Interventions And Sickle Cell Readmissions, Naphtali Edge 2021 University of Texas at Tyler

Dnp Final Report: Breaking The Cycle: Care Coordination Interventions And Sickle Cell Readmissions, Naphtali Edge

DNP Final Reports

Background

Approximately 100,000 people in the United States are affected by Sickle Cell Disease (SCD). Sickle Cell Disease represents the second highest readmitting diagnosis at Houston Methodist Hospital. The purpose of this study is to determine the impact of implementing care coordination interventions to reduce hospital readmissions of patients with SCD.

PICOT

In adult patients with SCD in the acute care hospital setting, how does care coordination intervention compared to no care coordination intervention affect the readmission rate for patients with SCD over a 3 – 6-month period?

Body of Evidence

Eleven studies were critical appraised and included in the ...


Study Design And Rationale For A Randomized Controlled Trial To Assess Effectiveness Of Stochastic Vibrotactile Mattress Stimulation Versus Standard Non-Oscillating Crib Mattress For Treating Hospitalized Opioid-Exposed Newborns, Elisabeth B. Salisbury, Debra Bogen, Mark A. Vining, Dane Netherton, Nicolas Rodriguez, Tory Bruch, Cheryl Burns, Emily Erceg, Barbara Glidden, M. Didem Ayturk, Sanjay Aurora, Toby Yanowitz, Bruce A. Barton, Sue Beers 2021 University of Massachusetts Medical School

Study Design And Rationale For A Randomized Controlled Trial To Assess Effectiveness Of Stochastic Vibrotactile Mattress Stimulation Versus Standard Non-Oscillating Crib Mattress For Treating Hospitalized Opioid-Exposed Newborns, Elisabeth B. Salisbury, Debra Bogen, Mark A. Vining, Dane Netherton, Nicolas Rodriguez, Tory Bruch, Cheryl Burns, Emily Erceg, Barbara Glidden, M. Didem Ayturk, Sanjay Aurora, Toby Yanowitz, Bruce A. Barton, Sue Beers

University of Massachusetts Medical School Faculty Publications

The incidence of Neonatal Abstinence Syndrome (NAS) continues to rise and there remains a critical need to develop non-pharmacological interventions for managing opioid withdrawal in newborns. Objective physiologic markers of opioid withdrawal in the newborn remain elusive. Optimal treatment strategies for improving short-term clinical outcomes and promoting healthy neurobehavioral development have yet to be defined. This dual-site randomized controlled trial (NCT02801331) is designed to evaluate the therapeutic efficacy of stochastic vibrotactile stimulation (SVS) for reducing withdrawal symptoms, pharmacological treatment, and length of hospitalization, and for improving developmental outcomes in opioid-exposed neonates. Hospitalized newborns (n = 230) receiving standard clinical care for ...


Consequences Of Aneuploidy In Human Fibroblasts With Trisomy 21, Sunyoung Hwang, Paola Cavaliere, Rui Li, Lihua (Julie) Zhu, Noah Dephoure, Eduardo M. Torres 2021 University of Massachusetts Medical School

Consequences Of Aneuploidy In Human Fibroblasts With Trisomy 21, Sunyoung Hwang, Paola Cavaliere, Rui Li, Lihua (Julie) Zhu, Noah Dephoure, Eduardo M. Torres

Open Access Publications by UMMS Authors

An extra copy of chromosome 21 causes Down syndrome, the most common genetic disease in humans. The mechanisms contributing to aneuploidy-related pathologies in this syndrome, independent of the identity of the triplicated genes, are not well defined. To characterize aneuploidy-driven phenotypes in trisomy 21 cells, we performed global transcriptome, proteome, and phenotypic analyses of primary human fibroblasts from individuals with Patau (trisomy 13), Edwards (trisomy 18), or Down syndromes. On average, mRNA and protein levels were increased by 1.5-fold in all trisomies, with a subset of proteins enriched for subunits of macromolecular complexes showing signs of posttranscriptional regulation. These ...


Rpgr Isoform Imbalance Causes Ciliary Defects Due To Exon Orf15 Mutations In X-Linked Retinitis Pigmentosa (Xlrp), Laura Moreno-Leon, Emma L. West, Michelle O'Hara-Wright, Linjing Li, Rohini Nair, Jie He, Manisha Anand, Bhubanananda Sahu, Venkat Ramana Murthy Chavali, Alexander J. Smith, Robin R. Ali, Samuel G. Jacobson, Artur V. Cideciyan, Hemant Khanna 2021 University of Massachusetts Medical School

Rpgr Isoform Imbalance Causes Ciliary Defects Due To Exon Orf15 Mutations In X-Linked Retinitis Pigmentosa (Xlrp), Laura Moreno-Leon, Emma L. West, Michelle O'Hara-Wright, Linjing Li, Rohini Nair, Jie He, Manisha Anand, Bhubanananda Sahu, Venkat Ramana Murthy Chavali, Alexander J. Smith, Robin R. Ali, Samuel G. Jacobson, Artur V. Cideciyan, Hemant Khanna

Open Access Publications by UMMS Authors

Mutations in retinitis pigmentosa GTPase regulator (RPGR) cause severe retinal ciliopathy, X-linked retinitis pigmentosa. Although two major alternatively spliced isoforms, RPGRex1-19 and RPGRORF15, are expressed, the relative importance of these isoforms in disease pathogenesis is unclear. Here, we analyzed fibroblast samples from eight patients and found that all of them form longer cilia than normal controls, albeit to different degrees. Although all mutant RPGRORF15 messenger RNAs (mRNAs) are unstable, their steady-state levels were similar or higher than those in the control cells, suggesting there may be increased transcription. Three of the fibroblasts that had higher levels of mutant RPGRORF15 mRNA ...


Htt Is A Repressor Of Abl Activity Required For App-Induced Axonal Growth, Claire Marquilly, Germain U. Busto, Brittany S. Leger, Ana Boulanger, Edward Giniger, James A. Walker, Lee G. Fradkin, Jean-Maurice Dura 2021 University of Montpellier

Htt Is A Repressor Of Abl Activity Required For App-Induced Axonal Growth, Claire Marquilly, Germain U. Busto, Brittany S. Leger, Ana Boulanger, Edward Giniger, James A. Walker, Lee G. Fradkin, Jean-Maurice Dura

Open Access Publications by UMMS Authors

Huntington's disease is a progressive autosomal dominant neurodegenerative disorder caused by the expansion of a polyglutamine tract at the N-terminus of a large cytoplasmic protein. The Drosophila huntingtin (htt) gene is widely expressed during all developmental stages from embryos to adults. However, Drosophila htt mutant individuals are viable with no obvious developmental defects. We asked if such defects could be detected in htt mutants in a background that had been genetically sensitized to reveal cryptic developmental functions. Amyloid precursor protein (APP) is linked to Alzheimer's disease. Appl is the Drosophila APP ortholog and Appl signaling modulates axon outgrowth ...


The Fighting Journey Of A Premature Baby: A Systemic Review Of Developmental And Neurological Complications Of The Premature Baby, Dana Patel 2021 University of Central Florida

The Fighting Journey Of A Premature Baby: A Systemic Review Of Developmental And Neurological Complications Of The Premature Baby, Dana Patel

Honors Undergraduate Theses

Prematurity is a worldwide problem. Every year, 15 million babies are born prematurely, and 1 million of those babies die because of related complications. The surviving premature babies are struggling to hold on to their lives, and even when they do live, most of them end up having various complications to survive and get stronger. There are physical complications faced on their journey such as having underdeveloped lungs, pneumonia, obesity, sepsis, retinopathy of prematurity, respiratory distress syndrome, bronchopulmonary dysplasia, asthma, wheezing, bronchiolitis, cerebral palsy, and motor impairment. They can also develop mental and behavioral health complications such as depression, seizures ...


A 5-Year Clinical Follow-Up Study From The Italian National Registry For Fshd, Liliana Vercelli, Louise Maranda, Tiziana Mongini, Rossella Ginevra Tupler 2021 University of Turin

A 5-Year Clinical Follow-Up Study From The Italian National Registry For Fshd, Liliana Vercelli, Louise Maranda, Tiziana Mongini, Rossella Ginevra Tupler

Open Access Publications by UMMS Authors

BACKGROUND: The natural history of facioscapulohumeral muscular dystrophy (FSHD) is undefined.

METHODS: An observational cohort study was conducted in 246 FSHD1 patients. We split the analysis between index cases and carrier relatives and we classified all patients using the Comprehensive Clinical Evaluation Form (CCEF). The disease progression was measured as a variation of the FSHD score performed at baseline and at the end of 5-year follow-up (DeltaFSHD score).

FINDINGS: Disease worsened in 79.4% (112/141) of index cases versus 38.1% (40/105) of carrier relatives and advanced more rapidly in index cases (DeltaFSHD score 2.3 versus 1 ...


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