Congenital, Hereditary, and Neonatal Diseases and Abnormalities Commons^™

There's No Vision Like Low Vision: Living With And Serving Those With Macular Degeneration And Stargardt Macular Dystrophy, Paul B. Freeman Od

Optometric Clinical Practice

Book Review: Perski T, There's No Vision Like Low Vision: Living with and Serving Those with Macular Degeneration and Stargardt Macular Dystrophy, Inicio Press, 2025. 306 pages, Paperback, $14.99, ISBN 978-1-998315-48-2, Kindle $9.99 ISBN 978–1– 998315– 49–9

Presentations Of Cutaneous Disease In Various Skin Pigmentations: Keratosis Pilaris, Henry Lim, Reem Ayoub, Madelyn Richards, Marshall Hall, Christian Scheufele, Dustin Wilkes, Michael Carletti, Stephen E. Weis

HCA Healthcare Journal of Medicine

Keratosis pilaris (KP) is a common benign disorder involving hyperkeratosis of the skin. It is associated with other common dry skin disorders such as atopic dermatitis and ichthyosis vulgaris. Lesions are clinically characterized as symmetrically distributed, monomorphic, folliculocentric, hyperkeratotic papules with a variable degree of perifollicular erythema. The appearance can be likened to spikey bumps that are commonly located on the arms, legs, and buttocks. Awareness of KP is important as every primary care clinician will see patients with this disorder. Identification can support the diagnosis of other associated skin diseases. Education about KP and its treatment may alleviate psychological …

Myocardial Pi3k-Akt Pathway And Cardiovascular Disease Etiology, Bryson Lovorn, Brennan Kaplan

Student Scholar Symposium

Cardiovascular diseases (CVD) are the leading causes of death in the United States according to recent data from the Center for Disease Control (CDC). Myocardial infarctions, heart attacks, Coronary Artery Disease, ischemic reperfusion injuries, and hypertrophic cardiomyopathies represent common pathologies leading to the hospitalization of Americans. The etiologies of these diseases vary, however there is a common link. The phosphatidylinositol-3-kinase (PI3K) AKT pathway is a cellular pathway that is commonly overexpressed or repressed in myocytes. The human body is in an active limbo to maintain homeostasis. At a cellular level this can be simplified to a delicate balance between cell …

An Art Of Port Wine Birthmark - A Case Report On Type Ii Sturge Weber Syndrome, Dr Sushmitha S, Dr Aravind Warrier S, Dr Dhivya Bharathi

Chulalongkorn Medical Journal

Sturge Weber Syndrome is a Phakomatoses group of neurocutaneous disorders. They manifest in the dermal, neural, ocular, and oral regions due to a mutation in the GNAQ gene. These lesions often are unilateral following the course of the trigeminal nerve.Here we present a case of 54-year-old woman with a history of glaucoma with a unilateral reddish-purple discoloration of the palate and a port-wine stain limited to the left side of her face. The clinical course of Sturge-Weber syndrome is quite complex and necessitates a multidisciplinary approach. In type 2 cases of Sturge-Weber syndrome, patients present with facial angiomas and glaucoma, …

The Impact Of Nicu Death On Bereaved Mothers, Jennie Terranova

University Honors Theses

Infant loss in the United States occurs 5.6 per 1,000 live births. This paper examines risk factors that contribute to neonatal death. Prematurity is a risk factor for NICU admission. A portion of premature babies receiving care in the NICU will die. The stressful nature of the NICU has been studied widely in journals. The impact of NICU death on hospital staff and bereaved parents has been studied less. Mortality studies suggest that bereaved mothers are at a high risk of dying within the first 5 years after their child has died. Despite the frequency of maternal death post-child loss, …

Variables Affecting Neurodevelopmental Outcome In Infants With Critical Congenital Heart Disease, Elizabeth Loughman, Julie Weiner Do, Marcie Files Md

Research Days

Background: The mortality of cardiac conditions in infancy is improving with advances in surgical planning and medical management. Neurologic morbidity remains significant. Clinically correlating an infant with their neurologic exam, MRI/EEG, and subsequent developmental testing remains a challenge. Counseling regarding neurologic outcomes after cardiac intervention is difficult due to the wide range of findings that can sometimes be clinically irrelevant.

Purpose: The goal of this study is to identify factors associated with poor neurodevelopmental outcomes in infants with critical congenital heart defects (CCHD) as assessed by the Bayley Scales of Infant and Toddler Development Edition IV (Bayley).

Methods: This is …

Knowledge And Confidence Of Obstetrics And Gynecology Residents In The Evaluation And Management Of Heavy Menstrual Bleeding Due To Inherited Bleeding Disorders, Patricia S. Huguelet, Irmel A. Ayala, Laurel Beaty, Christina Bemrich-Stolz, Claudia Borzutzky, Tazim Dowlut-Mcelroy, Sweta Gupta, Kendra Hutchens, Corinna L. Schultz, Lakshmi Srivaths, Maria C. Velez, Neeraja Swaminathan

School of Medicine Faculty Publications

BACKGROUND: Heavy menstrual bleeding (HMB) is common, and 20-30% of patients presenting with HMB are diagnosed with an inherited bleeding disorder (IBD). Despite the frequent association of HMB with bleeding disorders, specific learning objectives on this topic are lacking for Obstetrics and Gynecology (OBGYN) residents. OBJECTIVE: We sought to determine the exposure of OBGYN residents to didactics, clinical training, and confidence in evaluation and management of patients with HMB due to IBDs. METHODS: Prospective survey of OBGYN residents through email solicitation. Residents were invited to complete an anonymous 26-item survey, querying residents' confidence in evaluation and management of HMB in …

Best Screening: Introducing The Neonatal Assessment Visual European Grid To Nicus In Tennessee, Gabrielle Sledge

OTD Capstone Projects

Blind Early Services Tennessee (BEST) is an early intervention agency that serves children ages 0-5 with visual impairments across Tennessee. BEST serves over 200 children and families across the state offering early intervention (BEST Start), parent empowerment (BEST Advocate), and family support (BEST Together) programming. The purpose of this project was to assist in the implementation of an early identification initiative (BEST Screening) using the Neonatal Assessment Visual European Grid (NAVEG). The NAVEG is a newborn vision screening shown to identify neurological risk for visual impairments. The long-term goal of this program is to promote the screening and early identification …

Stigma And Patient-Controlled Analgesia: Trust Is The Essential Ingredient Of Successful Patient Education In The Patient-Doctor Relationship, Trey D. Vanaken

Clinical Research in Practice: The Journal of Team Hippocrates

A clinical decision report using:

Van Beers EJ, Van Tuijn CFJ, Nieuwkerk PT, et al. Patient-controlled analgesia versus continuous infusion of morphine during vaso-occlusive crisis in sickle cell disease, a randomized controlled trial. Am J Hematol. 2007;82(11):955-960. https://doi.org/10.1002/ajh.20944.

for a patient with recurrent vaso-occlusive crisis secondary to Sickle Cell Disease.

Cystic Fibrosis Transmembrane Conductance Regulator Modulation May Improve Intestinal Inflammation In Adults With Cystic Fibrosis, Lauren G. Culver

Clinical Research in Practice: The Journal of Team Hippocrates

A clinical decision report using:

Ooi CY, Syed SA, Rossi L, Garg M, Needham B, Avolio J, Young K, Surette MG, Gonska T. Impact of CFTR modulation with Ivacaftor on Gut Microbiota and Intestinal Inflammation. Sci Rep. 2018 Dec 13;8(1):17834. https://doi.org/10.1038/s41598-018-36364-6

for a patient with cystic fibrosis experiencing small bowel obstruction.

Development Of A Nurse Practitioner Driven Program For Cardiology Providers To Increase Knowledge And Awareness Of Neurodevelopmental Assessment Needs In Children With Congenital Heart Defects, Michele Readman

Doctor of Nursing Practice Final Manuscripts

Children diagnosed with congenital heart defects are at increased risk for neurodevelopmental delays. Timely referral of patients to a neurodevelopmental clinic for initial evaluation and referrals to support services can improve learning outcomes, provide early intervention for neurodevelopmental disorders, and mediate factors affecting low quality of life. Nationally, a substantial proportion of pediatric cardiologists are not referring children for neurodevelopmental evaluation. A review of patient referrals to a Cardiac Neurodevelopmental Clinic within an urban children’s hospital demonstrated an opportunity to improve provider awareness and knowledge of referral recommendations. Using the Iowa Model of Evidence-Based Practice to Promote Quality Care, an …

Assessing The Impact Of Camp Phever On Blood Phenylalanine Levels, Michelle Zelnick

Dissertations and Theses (Open Access)

Phenylketonuria (PKU) is a metabolic disorder that results in accumulation of the amino acid, phenylalanine, throughout the body. This can result in neurocognitive complications if individuals with this disease do not follow a low-protein diet. Camp PHEver is a weeklong summer camp that gives children with PKU an opportunity to obtain skills related to diet compliance, but also enhance their confidence, relationship development, and independence. Through learned skills and the strict diet regimen at camp, campers were found to have a statistically significant drop in phenylalanine (PHE) levels within a single attendance (mean decrease per year range = 2.1 to …

An Exploration Of Psychological Trauma And Positive Adaptation In Adults With Congenital Heart Disease During The Covid-19 Pandemic, Liza Morton Dr, Calum Calderwood, Nicola Cogan, Claire Murphy, Evan Nix, Jacek Kolacz Dr

Patient Experience Journal

The growing population of adults with congenital heart disease (CHD) often have lifelong experience of dealing with potentially traumatic health crises and medical uncertainty whilst facing increased vulnerability to post-traumatic stress disorder (PTSD). The COVID-19 pandemic presents additional challenges for this population including increased risk of health complications, shielding and strict social distancing, changes to medical care provision and social stigma. Despite such challenges, adults with CHD have the potential to also experience positive changes, yet little is known as to what helps cultivate positive adaptation and post-traumatic growth (PTG) within this context. The current study comprised a cross-sectional, anonymous, …

The Parkinson's Wellness Project: An 8-Part Educational Video Series, Samantha L. Stevenson

OTD Capstone Projects

The Parkinson’s Wellness Project is an 8-part educational video series created by Samantha Stevenson, a student in Belmont University’s Doctorate Program in Occupational Therapy. Purpose: This project was created to benefit all persons with Parkinson’s disease (PD) and their care partners who attend Rocksteady Boxing (RSB) in Franklin/Nashville, TN. Methodology: The student conducted research to identify the salient issues experienced by people living with PD. The issues were then synthesized into 8 separate categories including the following: facial expression, mental health, sexual health, self-care, sleep, diet and nutrition, meditation, and postural alignment. Experts in the healthcare field produced specialized content …

Alzheimer's And Patient Caregiver Burnout: A Review Of The Literature, Madeline Hekeler

James Madison Undergraduate Research Journal (JMURJ)

The term “silent epidemic” is fitting for Alzheimer’s disease (AD), as its negative impact is widely felt but rarely discussed. Burnout among AD caregivers has become an epidemic of its own as caregivers experience an increase in health risks, stress, and financial burden. This literature review focuses on caregiver burnout and how imperative it is that caregivers are better supported in their role. Researchers have developed instruments to assess and intervene in caregiver burnout that have shown effectiveness among caregivers and their families.Nevertheless, further longitudinal research is warranted regarding more effective interventions, including stress management and social support mechanisms.

A Fond Farewell, Dennis J. Baumgardner

Journal of Patient-Centered Research and Reviews

In this From the Editor introduction to Volume 9, Issue 1, the retiring editor-in-chief of Journal of Patient-Centered Research and Reviews recalls the history and initial aims of JPCRR, discusses the contents of articles in the current issue, and says good-bye.

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

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

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.

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 are …

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

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 the fetal compartment, several …

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 …

Similac Special Care And Elecare Cause Neonatal Gut Injury In Mice, Karishma Rao, Heather L. Menden, Wei Yu, Inamul Haque, Susana Chavez-Bueno, Alain C. Cuna, Shahid Umar, Venkatesh Sampath

Research Days

No abstract provided.

Safe Sleep In The Nicu, Ashley Mirabile, Barb Haney, Dianne Wilderson, Beckie Palmer, Ashley Domsch, Eugenia K. Pallotto

Posters

Goal: To evaluate a staff education program on approach to improve in the rate of eligible NICU infants in safe sleep in a busy 84-bed level IV NICU.

Outcome Measures; Improve safe sleep compliance for eligible patients to 90% or greater by December 2019.

Process Measures: Audits from bedside RNs showing compliance with safe sleep.

Planned Intervention: In December of 2018 a multidisciplinary work group brainstormed and implemented best practice safe sleep education for staff and parents. September 2019 a Safe Sleep Educational Toolkit was made available for staff.

Results: Safe Sleep compliance has gone from 53% to 90% in …

Why?-Abetes: Understanding Diabetes Management In Rural Kwa-Zulu Natal, South Africa, Kyra Wicklund

Independent Study Project (ISP) Collection

This project will investigate how diabetics, family members, and community members involved with diabetes relate to the disease and its continued management in a rural area of KwaZulu-Natal, South Africa. Although diabetes is an issue worldwide, it has been largely over-looked in sub-Saharan Africa. This study utilized interviews with diabetics, family members of diabetics, and clinic staff as well as personal observations to reveal the strategies, challenges, and stories of diabetes in this area. Conversations with local health experts verified that diabetes is a major issue in the area of this study. Topics of interest were support structures present; education; …

A Social Controversy: Autism Spectrum Disorder's Correlation To The Measles-Mumps-Rubella Vaccination, Lindsay A. Frye

Senior Honors Theses

A 1998 research study lead by Dr. Andrew Wakefield linked the measles-mumps-rubella (MMR) vaccination as a probable cause to autism spectrum disorder. This publication has started a significant debate among healthcare professionals and instigated an anti-vaccination movement within the general population. This vaccination controversy was started by parents who readily accepted Wakefield’s findings as truth and frequently would choose to withdrawal the administration of vaccinations from their children’s care plans. There has also been disapproval by healthcare professionals over Wakefield’s study since numerous research teams have been unable to replicate his findings. This disagreement surrounding the MMR vaccination is likely …

Sickle Cell Anemia, Derek Hayse

A with Honors Projects

What Sickle Cell Anemia is, its symptoms, how it is acquired, how it can be prevented, and how to deal with having it.