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

The Role Of Pre-Participation Exams In Identifying Student Athletes At Risk For Sudden Cardiac Arrest, Elizabeth Frey

Honors Projects

Sudden cardiac arrest (SCA) is the leading cause of death in young student athletes (Drezner et al., 2007). With athletes being recognized as some of the healthiest members of society, a catastrophic event like this can stimulate debate over pre-participation screening and appropriate emergency actions. With 55-80% cases of sudden cardiac death (SCD) being asymptomatic before the event (Drezner et al., 2007), looking into how well pre-participation screenings identify at risk individuals becomes much more important. This project investigates to what extent pre-participation physicals (PPE) can be improved to better identify student athletes at risk for sudden cardiac death and …

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 …

The Effects Of Omega-3 Pufa Infusions During Late Gestation On Developmental Pathologies In The Intrauterine Growth Restricted Fetus, Taylor Lacey

Department of Animal Science: Dissertations, Theses, and Student Research

Low birthweight due to intrauterine growth restriction is associated with metabolic disorders after birth. Our 1^st study assessed deficits in skeletal muscle glucose metabolism and pancreatic β cell function in IUGR fetal sheep. We aimed to evaluate the effectiveness of daily intravenous infusions of the anti-inflammatory ω-3 polyunsaturated fatty acid (PUFA), eicosapentaenoic acid (EPA), as a means of improving deficits previously observed in the IUGR fetus by targeting fetal systemic inflammation. The presence of systemic inflammation in IUGR fetuses was evident by increased total circulating populations of total leukocytes, lymphocytes, and monocytes. However, these were …

The Association Of Rs187238, Rs19465518 And Rs1946519 Il-8 Polymorphisms With Acute Kidney Injury In Preterm Infants, Fiva Aprilia Kadi

BioMedicine

ABSTRACT

Background: Interleukin 18 (IL-18) promoter polymorphisms (-656G>T, -607C>A, and -137G>C) affect serum IL-18 (sIL-18) levels and are associated with renal injury.

Purpose: This study aimed to determine the diagnostic utility of sIL-18 and urine IL-18 (uIL-18) as biomarkers for acute kidney injury (AKI) and analyse the association of IL-18 polymorphisms to AKI in preterm infants.

Methods: Blood and urine samples were collected from 56 preterm infants with AKI and 56 without AKI to measure serum creatinine (SCr), sIL-18, and uIL-18. Genotyping of polymorphisms was performed and analysed, with AUC-ROCs analysis used to evaluate …

Using Parameter Estimation For Mathematical Model Predicting Pediatric Scd Pain, Quindel Jones

Annual Symposium on Biomathematics and Ecology Education and Research

No abstract provided.

A Rare Combination Of Persistent Left Superior Vena Cava And Partial Anomalous Pulmonary Venous Return, Sang Lee, Bishoy Elbebawy, Neena Joy, George Demosthenes, William Deluccia

Advances in Clinical Medical Research and Healthcare Delivery

A persistent left superior vena cava (LSCV) is a form of anomalous venous drainage of the superior vena cava into the left atrium. We present a case of LSCV and partial anomalous pulmonary venous return (PAPVR) in a patient with progressively worsening dyspnea on exertion. A 57-year-old female with a history of aortic valve stenosis, and tobacco abuse presented with dyspnea on exertion for 4 days. On presentations her vitals were unremarkable except elevated blood pressure and oxygen saturation of 94% on 5L oxygen. Physical exam was pertinent for 3/6 crescendo-decrescendo murmur with a radiation to the right carotid, mild …

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 …

In Pursuit: A Mother’S Account Of Her Son’S Rare Disease Diagnosis Journey, Anne M. Jones

Journal of Patient-Centered Research and Reviews

A personal account from a mother’s perspective on her undiagnosed son’s medical journey over almost 6 years toward a diagnosis of a rare genetic variant in mitogen-activated protein kinase 8 interacting protein 3 (MAPK8IP3) resulting in neurodevelopment disorder.

Congenital Epulis: A Two-Case Report, Monica Ivanov, Bianca Stroe, Valeriu Ardeleanu, Razvan Hainarosie, Vlad Denis Constantin, Anca Silvia Dumitriu, Stana Paunica, Anna Kadar

Journal of Mind and Medical Sciences

Congenital epulis is a rare benign tumor of the newborn that could be detected in the prenatal period. Females are more often affected than males and the premaxillary region is usually the predilection site for this oral mass. Excision is the treatment of choice and no recurrences have been reported so far.

We present our experience with two cases of congenital epulis, detected in the second trimester of gestation and treated shortly after birth with no further complications. Histopathology should differentiate between congenital epulis and other congenital oral tumors even if its clinical appearance is usually enough to make a …

Esophageal Atresia Associating Gastrointestinal Malformations: A Study Of Clinical Approach, Dan Alexandru Iozsa, Andreea Cristina Costea, Nicolae Sebastian Ionescu

Journal of Mind and Medical Sciences

Digestive tract malformations requiring surgical repair in association with esophageal atresia are rare occurrences. Because of this uncommon presentation of esophageal atresia, its evaluation and management are often difficult, requiring extensive workup and multiple surgical procedures. We present our experience with esophageal atresia associating gastrointestinal congenital anomalies in the last 10 years. Clinical and surgical perspectives were pointed willing to make relevant observations in matters of diagnosis and treatment strategy in these patients. Therefore, 7 cases resembling this pattern were identified – duodenal atresia and anorectal malformation being the most common coexistent malformations. All the cases exhibited technical and procedural …

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 …

Accuracy Of Spontaneous Breathing Trial Using Et-Cpap In Predicting Successful Extubation Of Neonates, Azeem Khan, Vikram Kumar, Ali Shabbir Hussain, Erum Choudry, Muhammad Khalid, Sheharyar Khan, Fayaz Ahmed Memon, Anum Rahim, Syed Rehan Ali

Department of Paediatrics and Child Health

Objective: Extubation failure is common in mechanically ventilated neonates. Finding objective criteria for predicting successful extubation may help to reduce the incidence of failure and the length of mechanical ventilation (MV). We conducted this study to determine the accuracy of the spontaneous breathing trial (SBT) and lung function measurements in predicting successful extubation in neonates.
Methodology: This cross-sectional validation study was conducted at a tertiary care neonatal intensive care unit (NICU) over 12 months from December 2019 to December 2020. Neonates intubated for >24 hours and considered ready for extubation were enrolled in the study. Neonates who met defined eligibility …

Classical Findings Of Infantile Hepatic Hemangiomas, Senayit Demie, Michael Bossak

HCA Healthcare Journal of Medicine

Introduction

Hemangiomas are benign vascular tumors that are common during infancy. They are most commonly noted as superficial bright red lesions on the skin but can also be found deeper as subcutaneous lesions. Patients with multifocal cutaneous hemangiomas are at risk of visceral involvement with the liver being most commonly affected. Most hemangiomas can be monitored clinically as they are self-limiting. Despite this, hepatic hemangiomas can have serious complications including large arteriovenous shunts leading to cardiac compromise as well as severe hepatomegaly which can cause abdominal compartment syndrome, impaired ventilation and renal vein compression.

Clinical Findings

A six-month-old female, born …

Provider And Caregiver Perceptions Of Sids/Siuds Prevention In The Black Hills Of South Dakota, Levi Franz, Kenneth Snell

Aesculapius Journal (Health Sciences & Medicine)

Introduction: In spite of advances in medical technology, Sudden Infant Death Syndrome (SIDS) and Sudden Unexplained Infant Death Syndrome (SUIDS) remain common causes of death throughout the US, and especially in South Dakota. This study aims to elucidating the assumptions that physicians and patients have regarding SIDS.

Methods: 300 surveys were distributed to care givers of 0-9 months old children at a local pediatric office. An additional 5 surveys were distributed to physicians at this clinic who were asked to predict the overall outcomes of the caregiver surveys. Data were entered into excel and analyzed with ANOVA.

Results: Caregivers who …

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

Genomic Characterization Of Sickle Cell Mouse Models For Therapeutic Genome Editing Applications, Kaitly Jensen Woodard

Theses and Dissertations (ETD)

Sickle cell disease (SCD) is caused by a mutation of the β-globin gene (HBB), resulting in abnormal hemoglobin molecules that polymerize when deoxygenated, forming “sickle” shaped red blood cells (RBCs). Sickle RBCs lead to anemia, multi-organ damage and pain crises, beginning the first year of life. The onset of symptoms coincides with the developmental switch of β-like globin gene expression from fetal stage γ-globin to adult stage β-globin, resulting in a shift from fetal hemoglobin (HbF, α2γ2) to adult hemoglobin (HbA, α2β2). Some individuals harbor rare genetic variants in the extended β-globin gene cluster that cause constitutively elevated postnatal HbF, …

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, …

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

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

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 …

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) and their …

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 …

The Cerebellum's Relationship To Language Function Following Perinatal Stroke, Carolina Alexis Vias

FIU Electronic Theses and Dissertations

While recent studies have demonstrated the association between the cerebellum and higher-order cognitive functioning, it is still unclear how volumetric differences of specific regions of interests within the cerebellum across typical and atypical development are related to language function. We have done so by measuring the volume of cerebellar subregions of healthy controls, and compared the volume to behavioral measures of language function. We then followed with an analysis of the cerebellum’s relationship to language function following perinatal stroke, which provides us with a greater knowledge of the impact of a cortical injury on cerebellar development and the cognitive outcomes …

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 …

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 Effects Of Mapk Signaling On The Development Of Cerebellar Granule Cells, Kerry Morgan

University Scholar Projects

The granule cells are the most abundant neuronal type in the human brain. Rapid proliferation of granule cell progenitors results in dramatic expansion and folding of the cerebellar cortex during postnatal development. Mis-regulation of this proliferation process causes medulloblastoma, the most prevalent childhood brain tumor. In the developing cerebellum, granule cells are derived from Atoh1-expressing cells, which arise from the upper rhombic lip (the interface between the roof plate and neuroepithelium). In addition to granule cells, the Atoh1 lineage also gives rise to different types of neurons including cerebellar nuclei neurons. In the current study, I have investigated the …