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

Factors Associated With End-Of-Life Planning In Huntington Disease., Nancy R Downing, Siera Goodnight, Sena Chae, Joel S Perlmutter, Michael Mccormack, Elizabeth Hahn, Stacey K Barton, Noelle Carlozzi

Rowan-Virtua School of Osteopathic Medicine Departmental Research

OBJECTIVE: Knowledge of one's gene status for adult onset conditions provides opportunity to make advance end-of-life (EOL) plans. The purposes of these analyses were to (1) determine the prevalence of EOL plans, including advance directives (ADs) among persons across 3 stages of Huntington disease (HD) and (2) examine factors associated with having ADs in this sample.

METHODS: Data are from 503 participants in the HD Quality of Life study. Participants completed an online health-related quality-of-life survey that included questions regarding EOL planning and self-reported HD symptoms. Frequencies were calculated for EOL planning by the HD stage. Bivariate analysis and logistic …

Evaluating Cognition In Individuals With Huntington Disease: Neuroqol Cognitive Functioning Measures, Jin-Shei Lai, Siera Goodnight, Nancy R Downing, Rebecca E Ready, Jane S Paulsen, Anna L Kratz, Julie C Stout, Michael K Mccormack, David Cella, Christopher Ross, Jenna Russell, Noelle E Carlozzi

Rowan-Virtua School of Osteopathic Medicine Departmental Research

PURPOSE: Cognitive functioning impacts health-related quality of life (HRQOL) for individuals with Huntington disease (HD). The Neuro-QoL includes two patient-reported outcome (PRO) measures of cognition-Executive Function (EF) and General Concerns (GC). These measures have not previously been validated for use in HD. The purpose of this analysis is to evaluate the reliability and validity of the Neuro-QoL Cognitive Function measures for use in HD.

METHODS: Five hundred ten individuals with prodromal or manifest HD completed the Neuro-QoL Cognition measures, two other PRO measures of HRQOL (WHODAS 2.0 and EQ5D), and a depression measure (PROMIS Depression). Measures of functioning The Total …

Type 2 Diabetes, Aj Mimlitz

Global Issues in Public Health

The purpose of this two page educational document is to inform not only educators, but also students about the description of type two diabetes and what populations are affected, the epidemiology of type 2 diabetes, including how get diagnosed and how that diagnosis will affect specific outcomes, and the solutions to how we can prevent or begin to cure type 2 diabetes. This brief project shows plenty of statistics revolving around these main points. Research shows that “type 2 diabetes already causes 5 million deaths per year, expecting to become the 7th cause of death globally by 2030” (Alidrisi & …

Relationships Among Apathy, Health-Related Quality Of Life, And Function In Huntington's Disease., Nora E Fritz, Nicholas R Boileau, Julie C Stout, Rebecca Ready, Joel S Perlmutter, Jane S Paulsen, Kimberly Quaid, Stacey Barton, Michael K Mccormack, Susan L Perlman, Noelle E Carlozzi

Rowan-Virtua School of Osteopathic Medicine Departmental Research

Up to 90% of individuals with Huntington's disease (HD)-a progressive, inherited neurodegenerative disorder-experience apathy. Apathy is particularly debilitating because it is marked by a reduction in goal-directed behaviors, including self-care, social interactions, and mobility. The objective of this study was to examine relationships between variables of apathy, functional status, physical function, cognitive function, behavioral status/emotional function, and health-related quality of life. Clinician-rated measures of physical, cognitive, and behavioral function, including one clinician-rated item on apathy, and self-reported measures of physical function, health-related quality of life, and emotional, cognitive, and social function were collected in a single session from 487 persons …

A New Measure For End Of Life Planning, Preparation, And Preferences In Huntington Disease: Hdqlife End Of Life Planning, Noelle E Carlozzi, E A Hahn, S A Frank, J S Perlmutter, N D Downing, M K Mccormack, S Barton, M A Nance, S G Schilling, Hdqlife Site Investigators And Coordinators

Rowan-Virtua School of Osteopathic Medicine Departmental Research

BACKGROUND: Huntington disease is a fatal inherited neurodegenerative disease. Because the end result of Huntington disease is death due to Huntington disease-related causes, there is a need for better understanding and caring for individuals at their end of life.

AIM: The purpose of this study was to develop a new measure to evaluate end of life planning.

DESIGN: We conducted qualitative focus groups, solicited expert input, and completed a literature review to develop a 16-item measure to evaluate important aspects of end of life planning for Huntington disease. Item response theory and differential item functioning analyses were utilized to examine …

Microcephaly, Christianne E. Albers

Global Issues in Public Health

Microcephaly is a noncommunicable condition causing the head of an infant to be smaller than what is typical. Microcephaly can cause delays in developmental milestones and/or can cause other conditions such as epilepsy, cerebral palsy, learning disabilities, hearing loss and vision problems. Microcephaly is found more frequently in certain populations of the world than others, specifically those with an increased number of cases with Zika virus. Women need to take preventative measures to ensure their unborn child is safe from the Zika virus. The Zika virus is not the only way microcephaly can occur. Many other causes like exposure to …

The Effectiveness Of Interventions And Bundles For Central Line-Associated Bloodstream Infections In The Neonatal Intensive Care Unit, Mohamad Alhamwi

Honors Undergraduate Theses

Introduction: Central Line-Associated Bloodstream Infections (CLABSIs) are a major cause of increased mortality, morbidity and healthcare costs in neonatal intensive care units (NICUs) patients. Despite CDC's efforts to reduce infection rates, patients often suffer consequences. The objective of this study is to perform a systematic review of strategies utilized in the neonatal population and evaluate them with the current CDC's guidelines to assess the effectiveness of bundles in preventing CLABSI in NICUs.

Methods: A systematic literature search was conducted using CINAHL Plus with Text, Cochrane Database of Systematic Reviews and MEDLINE from January 2008 up to 2018. There were multiple …

The Effect Of Breastfeeding And Rooming-In Care On Neonatal Abstinence Syndrome, Rachel Boyer, Lindsay Gal, Mahaylie Cline

Williams Honors College, Honors Research Projects

Concurrent with a rise in opioid abuse during pregnancy is an increase in the number of babies born with Neonatal Abstinence Syndrome (NAS). Despite this crisis, no single treatment has been identified for NAS. This paper sought to analyze and synthesize research evaluating the effectiveness of breastfeeding and rooming-in care on the need and length of pharmacologic treatment and length of hospital stay for neonates with NAS. Twenty-six peer reviewed research articles published between 2006 and 2017 were selected from PubMed and CINAHL for analysis. The studies focused on neonates with NAS born to mothers addicted to opioids or undergoing …

Abnormal Dendritic Maturation Of Developing Cortical Neurons Exposed To Corticotropin Releasing Hormone (Crh): Insights Into Effects Of Prenatal Adversity?, Megan M. Curran, Curt A. Sandman, Elyssia Poggi Davis, Laura M. Glynn, Tallie Z. Baram

Psychology Faculty Articles and Research

Corticotropin releasing hormone (CRH) produced by the hypothalamus initiates the hypothalamic- pituitary-adrenal (HPA) axis, which regulates the body's stress response. CRH levels typically are undetectable in human plasma, but during pregnancy the primate placenta synthesizes and releases large amounts of CRH into both maternal and fetal circulations. Notably, placental CRH synthesis increases in response to maternal stress signals. There is evidence that human fetal exposure to high concentrations of placental CRH is associated with behavioral consequences during infancy and into childhood, however the direct effects on of the peptide on the human brain are unknown. In this study, we used …

A Description Of The Methods Of The Aspirin Supplementation For Pregnancy Indicated Risk Reduction In Nulliparas (Aspirin) Study, Matthew K. Hoffman, Shivaprasad S. Goudar, Bhalachandra S. Kodkany, Norman Goco, Marion Koso-Thomas, Menachem Miodovnik, Elizabeth M. Mcclure, Dennis D. Wallace, Jennifer J. Emingway-Foday, Antoinette Tshefu, Adrien Lokangaka, Carl L. Bose, Elwyn Chomba, Musaku Mwenechanya, Waldemar A. Carlo, Ana Garces, Nancy F. Krebs, K. Michael Hambidge, Sarah Saleem, Robert L. Goldenberg, Archana Patel, Patricia L. Hibberd, Fabian Esamai, Edward A. Liechty, Robert Silver, Richard J. Derman

Community Health Sciences

Background: Preterm birth (PTB) remains the leading cause of neonatal mortality and long term disability throughout the world. Though complex in its origins, a growing body of evidence suggests that first trimester administration of low dose aspirin (LDA) may substantially reduce the rate of PTB.
Methods: Hypothesis: LDA initiated in the first trimester reduces the risk of preterm birth. Study Design Type: Prospective randomized, placebo-controlled, double-blinded multi-national clinical trial conducted in seven low and middle income countries. Trial will be individually randomized with one-to-one ratio (intervention/control) Population: Nulliparous women between the ages of 14 and 40, with a …

Infection Control In Labor And Delivery Room, Learning From The Small Hospital Based Project, Savera Aziz Ali, Sumera Aziz Ali

School of Nursing & Midwifery

Background: It has been estimated that around 36% of the neonatal deaths occur due to infection in the lower and middle income countries. Infection control is a more substantial area of concern, particularly in Labor and delivery room. Multiple factors can cause infection in the labor room, therefore it is important to assess various factors of maternal and neonatal infection. Hence we explored multiple factors through this project and developed the action plan to address those factors effectively.
Methods: During our Leadership and Management course, we conducted a project in Labor room pertaining to a prevalent issue. The whole process …

Promotion Of Early Pediatric Hearing Detection Through Patient Navigation, Matthew L. Bush

Theses and Dissertations--Clinical and Translational Science

Congenital hearing loss is the most common neonatal sensory disorder and it is crucial to diagnose hearing loss as soon as possible after birth in order to facilitate rapid treatment. Universal standards of infant hearing healthcare dictate that infant hearing screening should be completed by one month of age and abnormal screening tests should be followed with definitive audiological testing by three months of age. Obtaining diagnostic testing can be complicated by limited access to care in rural areas, breakdowns in communication, lack of parental support, and poor coordination of care. There is no established method to address appointment non-adherence …

Biomarkers Of Sepsis: A Retrospective Approach, Jose M. Roberts

Williams Honors College, Honors Research Projects

Background: Biomarkers are taking the spotlight in becoming the norm for early diagnoses. Sepsis is an inflammatory disease that increases metabolic rate in children. The first biomarker is hyponatremia. Hyponatremia is a frequent electrolyte imbalance in clinical practice, often observed in children with inflammatory disease and infection. Presence of hyponatremia is associated with electrical signaling imbalances, inflammation and renal dysfunction. The clinical value of hyponatremia in pediatric patients is unknown. The C-reactive protein is a second biomarker. Its presence signifies that necrotic cells and inflammation are present.

Objectives: To evaluate the use of biomarkers in children seen in the Emergency …

Feasibility Of A Community-Based Sickle Cell Trait Testing And Counseling Program, Ashley Housten, Regina Abel, Terianne Lindsey, Allison King

Journal of Health Disparities Research and Practice

Background: Sickle cell trait (SCT) screening is required at birth in the United States; however, adults rarely know their SCT status prior to having children.

Purpose: Assess feasibility of a community-based SCT education and testing intervention.

Methods: Participants were recruited from eight community sites to complete an educational program and offered a hemoglobin analysis. A genetic counselor met individually with participants to discuss lab results.

Results: Between July 14, 2010 and May 31, 2012, 637 participants completed the educational program. Five hundred seventy (89.5%) provided a blood sample, and 61 (10.9%) had SCT or other hemoglobinopathies. The genetic counselor met …

Maternal Anxiety Associated With Newborn Hearing Screening, Stephen J. Tueller, Karl R. White

Journal of Early Hearing Detection and Intervention

The purpose of this study was to determine if newborn hearing screening increases maternal anxiety. Mothers whose infants were screened for hearing were asked how worried they were prior to hospital discharge and again six weeks later. They were also asked if they were more concerned about their baby’s hearing than they were about other aspects of the infant’s health and behavior.

Results showed that mothers worried as much or more about many other aspects of their infants’ health and behavior as about hearing. Mothers whose infants had a false positive screening result were initially more worried about hearing than …

Contraceptive Provision To Adolescent Females Prescribed Teratogenic Medications., Stephani L. Stancil, Melissa K. Miller, Holley Briggs, Daryl Lynch, Kathy Goggin, Gregory Kearns

Manuscripts, Articles, Book Chapters and Other Papers

BACKGROUND AND OBJECTIVES: Rates of adult women receiving contraceptive provision when simultaneously prescribed a known teratogen are alarmingly low. The prevalence of this behavior among pediatric providers and their adolescent patients is unknown. The objective of this study was to describe pediatric provider behaviors for prescribing teratogens concurrently with counseling, referral, and/or prescribing of contraception (collectively called contraceptive provision) in the adolescent population.

METHODS: A retrospective review was conducted examining visits in 2008-2012 by adolescents aged 14 to 25 years in which a known teratogen (US Food and Drug Administration pregnancy risk category D or X) was prescribed. The electronic …

Slug Bug: Quality Improvement With Orchestrated Testing Leads To Nicu Clabsi Reduction., Anthony J. Piazza, Beverly Brozanski, Lloyd Provost, Theresa R. Grover, John Chuo, Joan R. Smith, Teresa Mingrone, Susan Moran, Lorna Morelli, Isabella Zaniletti, Eugenia K. Pallotto

Manuscripts, Articles, Book Chapters and Other Papers

OBJECTIVE: Reduce central line-associated bloodstream infection (CLABSI) rates 15% over 12 months in children's hospital NICUs. Use orchestrated testing as an approach to identify important CLABSI prevention practices.

METHODS: Literature review, expert opinion, and benchmarking were used to develop clinical practice recommendations for central line care. Four existing CLABSI prevention strategies (tubing change technique, hub care monitoring, central venous catheter access limitation, and central venous catheter removal monitoring) were identified for study. We compared the change in CLABSI rates from baseline throughout the study period in 17 participating centers. Using orchestrated testing, centers were then placed into 1 of 8 …

Frequency Of Birth Defects And Its Relationship To Parents Having Interfamily Marriages At A Tertiary Care Hospital, Tufail Soomro, Shiyam Sunder Tikmani

Community Health Sciences

Background: Inter family cousin marriages carries a risk of increased birth defects. The exact contribution of interfamily to birth defects risk is controversial. The aims of this study were to determine the frequency of birth defects in in relation to interfamily or outside family marriages.
Methods: This cross sectional study was conducted in the Civil hospital Sukkur from 9th November 2013 to 13th December 2015. Mothers giving birth to babies married in interfamily or outside family with their consent obtained were included in the study. Mothers not giving consent for study and having any known major illnesses were excluded from …

Frequency Of Retinopathy Of Prematurity In A Tertiary Care Hospital, Shiyam Sunder Tikmani, Tufail Soomro, Prashant Tikmani

Community Health Sciences

Introduction: Retinopathy of prematurity (ROP) is one of a preventable cause of blindness in neonates. Screening of preterm infants for ROP in Pakistan is currently under-recognized. The aim of this study was to determine the frequency of retinopathy of prematurity (ROP) in premature and very low birth weight neonates (birth weight ≤ 1500 g and gestational age ≤ 32 weeks) in a tertiary care hospital, Karachi, Pakistan.
Methods: This was a cross-sectional study carried out in the neonatal intensive care unit (NICU) of Civil Hospital Sukkur from 1st June 2014 to 17th June 2015. Preterm neonates with birth weight ≤ …

Geographic Distribution Of Infant Death During Birth Hospitalization And Maternal Group B Streptococcus Colonization: Eastern Wisconsin, Jessica J.F. Kram, Dennis J. Baumgardner, Kiley A. Bernhard, Melissa A. Lemke

Journal of Patient-Centered Research and Reviews

Background: Neonatal death rate in the United States is 4/1,000 live births; infant death rate is 6/1,000. Group B Streptococcus (GBS) may be transmitted from a colonized mother (rates vary from 15% to 35%) to the newborn during a vaginal delivery, and may contribute to neonatal death.

Purpose: To explore the geographic distribution and associated risk factors for maternal GBS colonization and infant death prior to discharge in eastern Wisconsin births.

Methods: Retrospective study of institutional data from PeriData.net, a comprehensive birth registry, utilizing data from 2007 through 2013 at all Aurora medical centers. Categorical variables were analyzed with chi-square …

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 …

Prevention Of Mother-To-Child Transmission (Pmtct) Of Hiv In The Sub-Saharan Africa Region With A Focus On Uganda, Emily K. Franks

Senior Honors Theses

With the rise of the HIV/AIDS epidemic in the past thirty years, people of all ages, infants to elderly alike, all over the world, suffer from its adverse effects. Even an unborn baby in-utero can contract this virulent infection by means of mother-to-child transmission (MTCT) (Sweeney, 2005). Infants and children diseased in this way comprise 90% of the estimated 800,000 new cases of HIV in children seen each year, but the region hit hardest, however, is Sub-Saharan Africa, with the country of Uganda historically having the highest incident rate for a time (Stringer, E.M., et al. 2008). Therefore, the purpose …

The Impact Of Being Born With Cleft And Cleft Reparative Surgery On Overall Health And Speech Outcomes, Khatansuudal Evsanaa

Master's Theses

Orofacial cleft is one of the most common and treatable birth defects in the world. If left untreated, orofacial cleft can impair normal speech development, growth, and could lead to a number of health consequences later in life. The main motivation of the study is to measure the impact of being born with cleft and the cleft reparative surgery on overall speech and health cleft for teenagers in India using difference-in-differences approach along with household fixed effects method. An overall health outcome was measured using height, weight, grip strength and BMI, and the speech acceptability was measured using a “Universal …

Women, Children And Aids, Mary Guinan

School of Public Health Faculty Research

More than 500 cases of acquired immune deficiency syndrome (AlDS) in children (ages I3 and under) had been reported to the Centers for Disease Control as of August , 1987. Of these children, 78% were infected perinatally by their mothers. The ratio of AIDS cases among women to AIDS cases among ; i children has remained stable at approximately 5:1 for several years. So, for the foreseeable future, we can expect that for every five reports of women with AIDS, one child with AIDS will be reported. As is the CMe with other sexually transmitted diseases, AIDS causes a disproportionately …

Etiology Of Congenital Heart Disease, Jami G. Shakibi

Henry Ford Hospital Medical Journal

The different factors involved in the etiology of congenital heart disease are discussed with particular attention lo the teratogenic agents. Experimental production of congenital heart disease in animals is reviewed. This seems to be a very promising field for investigations, which may eventually lead to an understanding of the etiology of congenital heart disease and its prevention.

Gonadal Dysgenesis (Turner's Syndrome) With Associated Liver Disease And Bleeding Esophageal Varices, Travis Bridwell

Henry Ford Hospital Medical Journal

No abstract provided.

The Health Of The School Child With Special Reference To Heart Cases, Annette G. West

Bachelors’ Theses

The first of the generally accepted objectives of education is health. The importance to the community of the health of its children can hardly be over-emphasized when it is fully realized that the children of to-day are the bread winners and the parents of to-morrow. The health of our children is the foundation upon which the welfare of the community depends. To conserve the health of the child is as much a function of the state as it is to conserve the natural resources. To investigate the evils that exist and to remedy all that may be remedied without transgressing …