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

The Increasing Prevalence Of Cleft Lip With Or Without Cleft Palate In The Rio Grande Valley Of Texas, Yossef Alsabawi, Aaron I. Dadzie, Tyler Torres, Elias Arellano, Paul A. Berry

Research Symposium

Background: Orofacial clefts are a subset of birth defects that include cleft lip with or without cleft palate (CLP) and cleft palate alone (CP). The treatment for orofacial clefts is surgical repair, ideally within the first six months of life. Their impacts on patients and families are various and substantial. Babies with orofacial clefts can have trouble with breastfeeding, speech, recurrent ear infections, and hearing loss as they age. Additionally, there is a significant economic burden, with the average repair costing nearly $20,000, not including the costs of medical devices, postoperative care, and rehabilitation. Additionally, children with orofacial clefts face …

Neighborhood Environment And Poor Maternal Glycemic Control-Associated Complications Of Gestational Diabetes Mellitus, Leela V. Thomas, Claudine T. Jurkovitz, Zugui Zhang, Mitchell R. Fawcett, M. James Lenhard

Department of Medicine Faculty Papers

INTRODUCTION: Risk of complications due to gestational diabetes mellitus is increasing in the U.S., particularly among individuals from racial minorities. Research has focused largely on clinical interventions to prevent complications, rarely on individuals' residential environments. This retrospective cohort study aims to examine the association between individuals' neighborhoods and complications of gestational diabetes mellitus.

METHODS: Demographic and clinical data were extracted from electronic health records and linked to American Community Survey data from the U.S. Census Bureau for 2,047 individuals who had 2,164 deliveries in 2014-2018. Data were analyzed in 2021-2022 using Wilcoxon rank sum test and chi-square test for bivariate …

Sociodemographic Factors Influencing Pandemic-Era Ehdi Use And Access, Nicole Perez, David Adkins, Marissa Schuh, Jennifer B. Shinn, Lori Travis, Matthew L. Bush

Journal of Early Hearing Detection and Intervention

Objective: The COVID-19 pandemic impact on Early Hearing Detection and Intervention (EHDI) programs is unknown. This research evaluated sociodemographic factors influencing adherence to EDHI diagnostic testing and the incidence of infant hearing loss during the pandemic.

Method: We evaluated EHDI adherence and incidence of hearing loss in Kentucky before and during the COVID-19 pandemic. Using univariate and multivariate analysis, we evaluated the association of these outcomes to sociodemographic variables.

Results: There were 71,206 births and 1,385 referred infant hearing screening tests during the study period. Infants during the pandemic had a 24% lower odds of hearing testing adherence (OR …

The Effects Of Prenatal Buprenorphine Exposure On The Neurobehavioral Development Of The Child, Zaineb Zubair, Maryam Zubair, Juan Alonso, Abdullah Zubair

Rowan-Virtua Research Day

Background: Current guidelines for pregnant women with substance use disorder advise prenatal maintenance of opioid agonist therapy with either buprenorphine or methadone. Despite this rise in prenatal opioid agonist therapy, little is known about the effect of prenatal buprenorphine on the neurobehavioral development of the child. This poses the question: does buprenorphine have a long-lasting effect on the central and peripheral nervous system development and behavior of children who were exposed prenatally?

Methods: A comprehensive literature review identified articles relating to prenatal buprenorphine and neurobehavioral outcomes. Article searches were conducted on PubMed and Dynamed. Publications from 2002 through November 2021 …

Inflammatory Marker Levels Among Patients Diagnosed With Autism Spectrum Disorder And Congenital Heart Defects, Patrick Pearce, Venkateswar Venkataraman, Andrea Iannuzzelli, Jennifer Lecomte

Rowan-Virtua Research Day

Autism Spectrum Disorder (ASD) and congenital heart defects (CHD) are conditions that both confer an immense increase in standard of care, and utilization of medical resources addressing comorbidities. One shared symptom that has been consistently cited is inflammation. This review sought to explore the levels of Tumor Necrosis Factor-𝞪 (TNF-𝞪) and Interleukin-6 (IL-6) between patients diagnosed as having either ASD or CHD. By compiling published data containing the mean values of these two inflammatory markers within these populations, it was shown that while both have significantly elevated levels compared to a phenotypically normal demographic, there is no significant difference between …

Is There An Association Between Preeclampsia/Eclampsia And Congenital Heart Disease Among The Neurodivergent Population?, Jasmine Emanuel, Venkateswar Venkataraman, Jennifer Lecomte, Andrea Iannuzzelli

Rowan-Virtua Research Day

Preeclampsia and eclampsia are very common gestational conditions among pregnant individuals worldwide. These individuals are diagnosed with high blood pressure (after 20 weeks of gestation), proteinuria/end-stage organ disease, and may include seizures. These conditions can put the mother and fetus at risk. A review of literature has shown that there is an association between cardiovascular defects among the neurodivergent population, where these individuals have a higher risk of developing atrial septal defects and ventricular septal defects. The Rowan-Virtua Integrated Special Needs (RISN) Center patient population will be used to investigate whether preeclampsia/eclampsia in mothers is indicative of higher congenital heart …

Attitudes Toward Personal Health Data Sharing Among People Living With Sickle Cell Disorder, Exemplar For Study Of Rare Disease Populations, Rebecca Baines, Sebastian Stevens, Zainab Garba-Sani, Arunangsu Chatterjee, Daniela Austin, Simon Leigh

Journal of Patient-Centered Research and Reviews

Purpose: Rare conditions are often poorly understood, creating barriers in determining the value treatments can provide. This study explored barriers and facilitators to personal health data sharing among those with one particular group of rare hematologic disorders, ie, sickle cell disorder (SCD) and its variants.

Methods: A single online focus group among those > 18 years of age and living with SCD was conducted. Participants (N = 25) were recruited through a United Kingdom-based SCD charity. Discussions were transcribed verbatim, with data therein analyzed using inductive thematic analysis.

Results: Five primary motivators for sharing health data were identified: improving awareness; knowing …

Combatting Bacterial Infections: The Efficacy Of Poly-Gamma-Glutamic Acid On The Prevention Of Nasopharyngeal Infections Among Individuals With Cleft Lip And Palate, Florence Pun

Scripps Senior Theses

Cleft lip and palate (CLP) is a medical condition where children are born with an unfused lip and palate. While surgery is required to fuse the lip and palate, there are other conditions that children with CLP face after surgeries, such as otitis media (OM), speech impediments, and difficulty breathing. Particularly, OM occurs frequently in individuals with CLP because the tensor veli palatini muscles cannot open the Eustachian tube frequently and ventilate the middle ear properly, even after surgery. This thesis is a research proposal to evaluate whether γ-PGA can be used in nasal washes to safely prevent nasopharyngeal infections …

Should Health Systems Share Genetic Findings With At-Risk Relatives When The Proband Is Deceased? Interviews With Individuals Diagnosed With Lynch Syndrome, Jessica Ezzell Hunter, Jennifer L. Schneider, Alison J. Firemark, James V. Davis, Sara Gille, Pamala A. Pawloski, Su-Ying Liang, Victoria Schlieder, Alanna Kulchak Rahm

Journal of Patient-Centered Research and Reviews

Purpose: Genetic information has health implications for patients and their biological relatives. Death of a patient before sharing a genetic diagnosis with at-risk relatives is a missed opportunity to provide important information that could guide interventions to minimize cancer-related morbidity and mortality in relatives.

Methods: We performed semi-structured interviews with individuals diagnosed with Lynch syndrome at 1 of 4 health systems to explore their perspectives on whether health systems should share genetic risk information with relatives following a patient’s death. An inductive, open-coding approach was used to analyze audio-recorded content, with software-generated code reports undergoing iterative comparative analysis by a …

Emicizumab-Kxwh: A Critical Review, Kiera O'Leary

International Undergraduate Journal of Health Sciences

The first descriptions of haemophilia A were reported in the second century AD, with the first modern description by John Conrad Otto in 1803. Historically, the natural history of haemophilia A was associated with very high rates morbidity and mortality, often following trivial accidents. Although treatment options for haemophilia A have been revolutionised in recent decades, haemophilia A remains a hereditary disease of concern and factor replacement products remain the mainstay of treatment.

As such, patients with haemophilia can carry huge burdens, particularly when a complication such as a FVIII inhibitor is present. A recently approved novel therapeutic, Emicizumab-kxwh, has …

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, …

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.

Categorization And Frequency Of Indications For Packed Cell Transfusion In The Preterm Newborn During The Initial Hospital Stay At A Tertiary Care Hospital: A Cross-Sectional Study, Shirin Surani, Heeramani Lohana, Sheraz Ahmed, Rabia Hassan, Sapna Kewalani, Khalil Ahmed

Department of Paediatrics and Child Health

Introduction: Packed cell transfusion is a lifesaving procedure in premature babies as they have more complications as compared to babies who are born at term. Complications related to prematurity increase as gestational age decreases and anemia is one of the complications of prematurity which needs packed cell transfusions. To date, when to transfuse preterm babies and what would be the threshold for hemoglobin and hematocrit is still a point of argument as well as liberal versus restrictive transfusion protocols have been developed but what should be followed still needs more data. In our study, we have observed frequencies of different …

Derivation And Validation Of A General Predictive Model For Long Term Risks For Mortality And Invasive Cardiovascular Interventions In Congenital Heart Disease, David A. Danford

Capstone Experience

Introduction. Accurate assessment of prognosis is a key driver of clinical decision making in congenital heart disease (CHD), but is complicated because CHD represents such a diverse collection of conditions. The aim of this investigation is to derive, validate, and calibrate multivariable predictive models for time to surgical or catheter-mediated intervention (INT) in CHD and for time to death in CHD. Methods. 4108 unique subjects were prospectively and consecutively enrolled, and randomized to derivation and validation cohorts. Total follow up was 26,578 patient-years, with 102 deaths and 868 INTs. Accelerated failure time multivariable predictive models for the outcomes, based on …

Evaluation The Effectiveness Of Abridged Imnci (7-Day) Course V Standard (11-Day) Course In Pakistan, Shabina Ariff, Kamran Sadiq, Uswa Jiwani, Khalil Ahmad, Khadija N Humayun, Shakeel Ahmed, Shaikh Qamaruddin Nizami, Iqtidar Khan, Nabeela Ali, Sajid Bashir Soofi, Zulfiqar Ahmed Bhutta

Department of Paediatrics and Child Health

Background: The conventional IMCI training for healthcare providers is delivered in 11 days, which can be expensive and disruptive to the normal clinical routines of the providers. An equally effective, shorter training course may address these challenges.
Methods: We conducted a quasi-experimental study in two provinces (Sindh and Punjab) of Pakistan. 104 healthcare providers were conveniently selected to receive either the abridged (7-day) or the standard (11-day) training. Knowledge and clinical skills of the participants were assessed before, immediately on conclusion of, and six months after the training.
Results: The improvement in mean knowledge scores of the 7-day and 11-day …

Impact Evaluation Of The Efficacy Of Different Doses Of Vitamin D Supplementation During Pregnancy On Pregnancy And Birth Outcomes: A Randomised, Controlled, Dose Comparison Trial In Pakistan, Sidrah Nausheen, Atif Habib, Maria Asif Bhura, Arjumand Rizvi, Fariha Shaheen, Kehkashan Begum, Junaid Iqbal, Shabina Ariff, Lumaan Sheikh, Syed Shamim Raza, Sajid Bashir Soofi

Department of Obstetrics & Gynaecology

Background: Vitamin D deficiency during pregnancy is a public health problem in Pakistan and is prevalent among most women of reproductive age in the country. Vitamin D supplementation during pregnancy is suggested to prevent adverse pregnancy outcomes and vitamin D deficiency in both the mother and her newborn.
Methods: We conducted a double-blinded, randomised controlled trial in Karachi, Pakistan to evaluate the effect of different doses of vitamin D supplementation during pregnancy on biochemical markers (serum 25(OH)D, calcium, phosphorus and alkaline phosphatase) in women and neonates, and on pregnancy and birth outcomes (gestational diabetes, pre-eclampsia, low birth weight, preterm births …

Quality Of Inpatient Care Of Small And Sick Newborns In Pakistan: Perceptions Of Key Stakeholders, Nousheen Pradhan, Ammarah Ali, Sana Roujani, Sumera Aziz Ali, Samia Rizwan, Sarah Saleem, Sameen Siddiqi

Community Health Sciences

Background: In LMICs including Pakistan, neonatal health and survival is a critical challenge, and therefore improving the quality of facility-based newborn care services is instrumental in averting newborn mortality. This paper presents the perceptions of the key stakeholders in the public sector to explore factors influencing the care of small and sick newborns and young infants in inpatient care settings across Pakistan.
Methods: This exploratory study was part of a larger study assessing the situation of newborn and young infant in-patient care provided across all four provinces and administrative regions of Pakistan. We conducted 43 interviews. Thirty interviews were conducted …

Clinical Profile And Predictors Of Mortality In Neonates Born With Non-Immune Hydrops Fetalis: Experience From A Lower-Middle-Income Country, Vinod K. Hasija, Adnan Mirza, Waqar Khowaja, Sidra Asif, Muhammad Sohail Salat, Shabina Ariff, Khalil Ahmad

Department of Paediatrics and Child Health

Introduction: Hydrops fetalis (HF) is a life-threatening condition in which a fetus has an abnormal collection of fluid in the tissue around the lungs, heart, abdomen, or under the skin. Based on its pathophysiology, it is classified into immune and non-immune types. With the widespread use of anti-D immunoglobulin, non-immune HF has become more common, with an incidence of one in 1,700-3,000 live births. A multitude of fetal diseases with various causes can lead to non-immune HF. Due to the recent advances in prenatal diagnostic and therapeutic interventions together with improved neonatal intensive care, the diagnosis and subsequent management of …

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

Evaluating Motor Performance With The Bruininks-Oseretsky Test Of Motor Proficiency In Impoverished Pakistani Children, Zehra Habib Hasan, Fariha Shaheen, Arjumand Rizvi, Jelena Obradovic, Aisha Khan Yousafzai

Department of Paediatrics and Child Health

Objective: To evaluate the sensitivity of the modified Brief Form of Bruininks Oseretsky Test in identifying motor differences secondary to malnutrition and poverty.
Methods: This longitudinal cohort study was conducted at Nowshero Feroze, Sindh from 2013 to 2014 and comprised data drawn from children who participated in a randomised controlled trial, that assessed responsive stimulation and nutrition interventions in the first two years of life. Outcome measures included motor development assessed using Brief Form of Bruininks Oseretsky Test, child anthropometry and household economic and demographic information. Data was analysed using SPSS 15 and STATA 12.
Results: Of the 1058 children, …

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 …

Ethnic Differences In Maternal Cytokines And Adipokines And Their Association With Spontaneous Preterm Delivery, Yelizavet D. Lomakova, Xinhua Chen

Rowan-Virtua Research Day

Spontaneous preterm delivery (SPTD, birth at <37 weeks’ gestation) is a leading cause of infant mortality in the United States [1]. Infants born prematurely are more likely to suffer from both short and long-term complications including neurodevelopmental delay, visual and hearing impairment, and chronic diseases such as heart disease, hypertension and diabetes in later life [2-4]. African American women have a 2-fold increased risk of preterm delivery compared to Caucasian women [5].The reasons for this disparity are poorly understood. This limits the ability to predict and prevent preterm delivery in the most high-risk populations.

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 a …

Maternal Proximity To Mountaintop Removal Mining And Birth Defects In Appalachian Kentucky, 1997-2003, Daniel B. Cooper

Theses and Dissertations--Public Health (M.P.H. & Dr.P.H.)

Background: Extraction of coal through mountaintop removal mining (MTR) alters many dimensions of the landscape, and explosive blasts, exposed rock, and coal washing have the potential to pollute air and water with substances known to increase risk of developmental and birth anomalies. Previous research suggests that infants born to mothers living in MTR coal mining counties have higher prevalence of most types of birth defects.

Objectives: This study seeks to examine further the relationship between MTR activity and birth defects by employing individual level exposure estimation through precise satellite data of MTR activity in the Appalachian region and maternal residence …

Frequency And Outcome Of Meconium Aspiration Syndrome In Babies Born With Meconium-Stained Liquor At Secondary Care Hospital In Pakistan: A Case Series Study, Abdul Moeed, Heeramani Lohana, Sarwat Urooj, Sheraz Ahmed, Khalil Ahmed, Khadija N Humayun

Department of Paediatrics and Child Health

Background: Meconium aspiration syndrome (MAS) in the newborn is characterized by hypoxia, hypercapnia, and acidosis. MAS is a leading cause of morbidity and mortality in neonates. The primary objective of this study was to estimate the frequency of meconium aspiration syndrome (MAP) in babies born with meconium-stained liquor. The secondary outcome was to estimate the meconium aspiration syndrome; in terms of hospital stay, complications, and mortality.
Methods: The study was done at Aga Khan Maternal and Child Care Centre, Hyderabad, Pakistan. Study design was case series and the duration of the study was of 6 months. All patients who fulfilled …

Polysubstance Exposure And Its Relationship To Pharmacological Treatment Characteristics, Parker Miller

Undergraduate Honors Theses

Neonatal Abstinence Syndrome (NAS) remains an ever-growing public health issue and a continued avenue for future research. The research question for this retrospective study was whether polysubstance exposure is related to the dose of medication the infant received or to the number of opioid-medications required to treat the infants’ withdrawal symptoms? The hypothesis for the retrospective study was there will be a significant relationship between polysubstance exposure and the dose of medication the infant received as well as the number of opioid-medications required to treat the infants’ withdrawal symptoms. A bivariate correlational indicated that there was not a significant association …

Prophylaxis Of Food Allergen Sensitivity, Dustin Gottfeld

Physician Assistant Studies | Student Articles

Food allergies can have a severe and drastic effect on a person’s lifestyle, while prevention of allergic disease can help to ensure others do not have to live with this burden. There are a variety of differing hypotheses that offer explanations for the early development of food allergies, particularly peanut allergies. Two of the foremost hypotheses are the Hygiene Hypothesis and the Dual-Allergen Hypothesis. The Hygiene Hypothesis claims that the diversity of a child’s microbiota creates a beneficial balance of microorganisms which can help prevent the development of allergic disease. Alternatively, the Dual-Allergen Hypothesis states that early environmental exposure to …

Is It Fair To Compare? A Patient And Family Experience Of Two Healthcare Systems And Neurosurgical Teams Within A Two-Week Period, Laura Miller Cpxp

Patient Experience Journal

As the mother of a 28-year-old son with cerebral palsy and hydrocephalus, and as a healthcare consultant focused on patient experience and professional development, I have a unique perspective and skill set. Recently he experienced symptoms that included an excruciating headache, neck pain and lethargy. Fearing his ventriculoperitoneal shunt had malfunctioned, he went to the emergency room and was later admitted on the neuro inpatient floor for a three-day hospitalization. His original shunt had been placed in 1991, and he never had an issue with until August 2018. While in the hospital, he was informed that he was no longer …

Kangaroo Mother Care: Opportunities And Implications For Rural Pakistan, Hasan Nawaz Tahir, Zafar Fatmi

Community Health Sciences

Neonatal mortality comprises 40% of total under-5 mortality, globally. Kangaroo mother care (KMC) is one of the most cost-effective interventions to reduce neonatal mortality. KMC does not require highend equipment, intensive care facilities or technical knowledge. A recent meta-analysis reported that KMC may reduce neonatal mortality in preterm and low birth weight neonates up to 36%. A review of enablers and barriers of KMC suggests that KMC can be integrated in maternal health care system by giving awareness, involving family and giving ownership of the intervention to the community. If supported with minimal incentives it would reduce the cost of …