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Congenital, Hereditary, and Neonatal Diseases and Abnormalities Commons™
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Articles 1 - 29 of 29
Full-Text Articles in Congenital, Hereditary, and Neonatal Diseases and Abnormalities
Diffuse Correlation Spectroscopy Measures Of Cerebral Blood Flow During Graded Hypoxia In Neonatal Piglets, Danielle Shoshany, Shadi Malaeb, Randolph Sinahon, Mert Deniz Polat, Meltem Izzetoglu, Patricia A. Shewokis, Kurtulus Izzetoglu
Diffuse Correlation Spectroscopy Measures Of Cerebral Blood Flow During Graded Hypoxia In Neonatal Piglets, Danielle Shoshany, Shadi Malaeb, Randolph Sinahon, Mert Deniz Polat, Meltem Izzetoglu, Patricia A. Shewokis, Kurtulus Izzetoglu
St. Chris Research Day
No abstract provided.
Bronchopulmonary Dysplasia: Pathophysiology And The Effects Of The Microbiome, Anjali Jacob
Bronchopulmonary Dysplasia: Pathophysiology And The Effects Of The Microbiome, Anjali Jacob
Senior Honors Theses
Bronchopulmonary dysplasia (BPD) is a chronic neonatal lung disease that occurs in over 50% of premature infants. BPD is characterized by damage to the alveoli and bronchioles and improper vasculature formation. It is primarily caused by overexposure to oxygen through mechanical ventilation, but there are other risk factors that make infants more susceptible to BPD. Microbial composition impacts risk for developing BPD, and research is ongoing about the effects of the microbiome on BPD pathogenesis; this information is also valuable for preventative treatment. This paper reviews the normal function of the lungs, pathogenesis of BPD and how it affects normal …
The Molecular Basis Of Maple Syrup Urine Disease, Chloe Jensen
The Molecular Basis Of Maple Syrup Urine Disease, Chloe Jensen
Senior Honors Theses
Maple syrup urine disease (MSUD) is a rare metabolic disorder that is caused by mutations in the branched chain alpha keto acid dehydrogenase enzyme complex (BCKDC). There are three main genes, the BCKDHA, BCKDHB, and DBT, that affect the BCKDC, all contributing to the onset of the disease. MSUD causes encephalopathy, neural deficits, maple syrup scented urine, coma, and even death if not treated due to the aggregation of branched-chain amino acids (BCAAs). There is currently no known cure for patients with MSUD, but the condition can be managed to improve quality of life. This review serves to examine MSUD …
The Impact Of Vitamin Supplementation (D, B12, B9) On Behaviors Associated With Autism Spectrum Disorder, Rohan Mehra
The Impact Of Vitamin Supplementation (D, B12, B9) On Behaviors Associated With Autism Spectrum Disorder, Rohan Mehra
Rowan-Virtua Research Day
Background: One in 36 children in the United States are diagnosed with Autism Spectrum Disorder (ASD). Although heritability of the condition ranges from 40 to 80%, other factors such as vitamin levels, may have a significant impact on the risk of development. These vitamins include D, B12, and B9.
Purpose: To assess the impact vitamin supplementation has on behaviors associated with ASD, and to determine which specific aspects of ASD may be improved with vitamin supplementation.
Methods: A literature review was performed. The search was utilized PubMed, JSTOR and Web of Science. Keyword strings included: “Vitamin D B12 B9 folate …
Factors Affecting Caregiver Burden In Informal Caregivers Of Patients With Autism Spectrum Disorder, Brian Joseph Mathew, Maduka Gunasinghe, Usmaan Al-Shehab, Samrat Gollapudi, Prince Patel, Maithri Goud
Factors Affecting Caregiver Burden In Informal Caregivers Of Patients With Autism Spectrum Disorder, Brian Joseph Mathew, Maduka Gunasinghe, Usmaan Al-Shehab, Samrat Gollapudi, Prince Patel, Maithri Goud
Rowan-Virtua Research Day
Individuals with Autism Spectrum Disorder (ASD) often require lifelong care to meet their daily needs, which is typically provided by informal sources like family members as well as formal caregivers from home health agencies. The persistent stress of raising a child with ASD can potentially lead to parental burnout, highlighting the importance of understanding the struggles faced by these caregivers. Clinicians must prioritize the well-being of both the individuals with ASD and their dedicated caregivers by gaining a comprehensive understanding of the challenges they encounter.
Our research aims to investigate and comprehend the specific challenges faced by caregivers of individuals …
A Literature Review Of Current Treatments For The Hypermobility Subtype Of Ehlers-Danlos Syndrome, John Gericke, Mary Zsolway, Chelsea Reyes, Pooja Patel, Saad Ahmed, Julia Hwang, Venkateswar Venkataraman
A Literature Review Of Current Treatments For The Hypermobility Subtype Of Ehlers-Danlos Syndrome, John Gericke, Mary Zsolway, Chelsea Reyes, Pooja Patel, Saad Ahmed, Julia Hwang, Venkateswar Venkataraman
Rowan-Virtua Research Day
Purpose: The purpose of this study is to compare pharmacologic intervention, neurocognitive therapy, physical therapy, and orthotics in treating the hypermobility subtype of Ehlers-Danlos Syndrome (hEDS) and determine which has the most positive effect on symptoms.
Introduction: Ehlers-Danlos Syndrome is an inheritable connective tissue disorder which results from a genetic mutation that alters the body’s ability to produce collagen. The most common subtype of Ehlers-Danlos Syndrome is hEDS, which leads to hypermobility and hyperextensibility and can cause frequent joint dislocations.
Methods: A review of literature was performed to compare each treatment based on reported results. The types of studies reviewed …
Complications Following Hemivertebrectomy For Congenital Scoliosis, Sanjana Davuluri, Taemin Oh, Kyrillos Akhnoukh, Zachary Weingrad, Michael Lesgart, Terrence Ishmael, Joshua Pahys, Amer Samdani, Steven Hwang
Complications Following Hemivertebrectomy For Congenital Scoliosis, Sanjana Davuluri, Taemin Oh, Kyrillos Akhnoukh, Zachary Weingrad, Michael Lesgart, Terrence Ishmael, Joshua Pahys, Amer Samdani, Steven Hwang
Rowan-Virtua Research Day
Introduction:
Hemivertebrae are rare congenital anomalies that can cause severe scoliosis requiring surgical correction. We aimed to determine whether severity of deformities is associated with more long-term surgical complications following surgical correction.
Methods:
We performed a retrospective, single-institution review on patients who underwent hemivertebrectomy and spinal fusion for congenital scoliosis between 2008-2020. We extracted pertinent data on demographics, radiographic parameters, operative details, and complication rates. Subgroup analyses were also done by complication severity, deformity complexity, and construct length.
Results:
In our series, 30 patients underwent hemivertebrectomy and fusion. Mean age was 9±4.2 years and there was 2:1 male preponderance, with …
Case Report: A Case Of Ttp In The Ed, Brian F. Lim, Andrew Caravello, James A. Espinosa, Alan Lucerna
Case Report: A Case Of Ttp In The Ed, Brian F. Lim, Andrew Caravello, James A. Espinosa, Alan Lucerna
Rowan-Virtua Research Day
We report a case of a 54-year-old female who presented with mild shortness of breath, lower chest discomfort, fatigue, and weakness ongoing for several days and was diagnosed with thrombotic thrombocytopenic purpura (TTP). TTP is characterized by microangiopathic hemolytic anemia and thrombocytopenia due to either an inherited or immune-mediated reduction in von Willebrand Factor (VWF) cleaving protease ADAMTS13.
Patients presenting with non-specific symptoms is becoming increasingly common and initial bias could be to attribute symptoms to viral syndrome or upper respiratory tract infection. However, the differential for non-specific complaints is extensive and thorough review of labs and re-evaluations of patients …
Investigating The Link Between Preeclampsia/Eclampsia In Mothers And Cardiovascular Risk Among Their Neurodivergent Children, Jasmine Emanuel, Andrea Iannuzzelli, Venkateswar Venkataraman
Investigating The Link Between Preeclampsia/Eclampsia In Mothers And Cardiovascular Risk Among Their Neurodivergent Children, Jasmine Emanuel, Andrea Iannuzzelli, Venkateswar Venkataraman
Rowan-Virtua Research Day
Preeclampsia/Eclampsia are common gestational conditions among pregnant women. These individuals have hypertension after 20 weeks of gestation, proteinuria/end-stage organ disease, and may have seizures. These conditions can put the mother and fetus at risk.1,2 A review of literature investigates whether an association exists between congenital heart defects (CHD), and maternal preeclampsia/eclampsia in the neurotypical and neurodivergent population. The Rowan-Virtua Regional Integrated Special Needs (RISN) Center patient population was used to investigate whether maternal preeclampsia/eclampsia is indicative of higher congenital heart disease (CHD) in their neurodivergent children to achieve better quality of care. As a first step towards exploring the …
Ultrasound Versus Radiography For Evaluating Surgical Necrotizing Enterocolitis, Sayed H. Aftab, Santiago Martinez-Correa, Minh-Huy Huynh, Wondwossen T. Lerebo, Jorge Delgado, Rebecca Denis, Misun Hwang
Ultrasound Versus Radiography For Evaluating Surgical Necrotizing Enterocolitis, Sayed H. Aftab, Santiago Martinez-Correa, Minh-Huy Huynh, Wondwossen T. Lerebo, Jorge Delgado, Rebecca Denis, Misun Hwang
Rowan-Virtua Research Day
Purpose:
Necrotizing enterocolitis (NEC) is an abdominal inflammatory condition that is common in premature neonates. Although abdominal radiograph (AR) remains the imaging standard for NEC, it may miss up to 50% of early signs of NEC and has been described to have a sensitivity as low as 15.4% for detecting pneumoperitoneum. Abdominal ultrasound (US) is portable, non-invasive, and allows real-time bowel integrity, movement, and perfusion assessment. We aim to evaluate the concordance between US and AR in detecting NEC features and the diagnostic performance of both modalities in detecting pneumoperitoneum.
Methods and materials:
We conducted an IRB-approved retrospective, cross-sectional, single-center …
Brief Review: Regional Anesthesia For Vaso-Occlusive Pain Crises, Oluwatomi Alade
Brief Review: Regional Anesthesia For Vaso-Occlusive Pain Crises, Oluwatomi Alade
Rowan-Virtua Research Day
Vaso-occlusive pain crisis occurs with obstruction of blood vessels from sickled red blood cells. This results in ischemic injury causing in pain. Acute vasoocclusive pain crisis is one of the most common reasons for patients with sickle cell disease to present to the hospital for medical attention. Acute treatment involves IV opioid therapy, non-opioid therapy, and IV hydration. There is a known lack of trust between a patient in acute pain and a provider in the emergency department (ED) and hospital secondary to stereotypes regarding pain seeking behavior. Here we discuss a case of vasoocclusive pain crisis refractory to opioid …
Vitamin Level Differences Across The Asd Spectrum, Rohan Mehra, Wendy F. Aita, Andrea Iannuzzelli
Vitamin Level Differences Across The Asd Spectrum, Rohan Mehra, Wendy F. Aita, Andrea Iannuzzelli
Rowan-Virtua Research Day
Background: In the United States, 2.7% of children are diagnosed with Autism Spectrum Disorder (ASD). Environmental factors such as vitamin levels, including D, B9, and B12, may have a significant impact on the risk of development. Children conceived in winter months, with low sunlight and Vitamin D levels, have a higher risk of developing ASD. Vitamin B12 deficiency is generally linked with an increased risk of neurodevelopmental disorders. Additionally, vitamin B9 deficiency of a mother during gestation is linked to a higher risk of her child developing ASD.
Purpose: To assess potential differences in vitamin levels between patients of differing …
Gut Microbiome And Nutrition Interplay In Regulating And Improving Autism Spectrum Disorder Related Social Symptoms, Irenonsen Juliet Eigbe, Christian Moya Gamboa, Jana Gjini, Jaydeep Mukherjee, Susrut Dube
Gut Microbiome And Nutrition Interplay In Regulating And Improving Autism Spectrum Disorder Related Social Symptoms, Irenonsen Juliet Eigbe, Christian Moya Gamboa, Jana Gjini, Jaydeep Mukherjee, Susrut Dube
Rowan-Virtua Research Day
The composition of the gut microbiome has been shown to play a role in the onset of neurological disorders, including Autism Spectrum Disorder(ASD). A small variety of recent research articles identify a possible link between onset and severity of ASD related behaviors and the composition of the gut microbiome. The purpose of this review is to identify gaps in the current understanding of the role that nutrition plays in changing the gut microbiome and subsequently altering the onset and severity of behavioral phenotypes in children with ASD. Inclusion criteria comprises peer-reviewed publications relating to children with autism. Exclusion criteria consists …
Development And Implementation Of An Evidence Based Practice Guideline Related To The Management Of Adult Angioedema, Megan Przybysz
Development And Implementation Of An Evidence Based Practice Guideline Related To The Management Of Adult Angioedema, Megan Przybysz
Doctor of Nursing Practice Scholarly Projects
Angioedema (AE) is a potentially life-threatening medical condition that occurs with a higher frequency than medical providers may expect, with the emergency department (ED) serving as the usual first point of medical contact for patients. Any hesitation in recognizing AE or inconsideration of the disease process in differential diagnoses may lead to a dangerous delay of care. Due to the potential rapid progression of airway obstruction in AE, inexperienced providers should not attempt intubation, instead deferring to providers experienced in alternative airway techniques (i.e., anesthesia providers). The primary goal of this project is to develop an evidencebased practice guideline for …
Best Screening: Introducing The Neonatal Assessment Visual European Grid To Nicus In Tennessee, Gabrielle Sledge
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 …
The Silent Culprit: Factor V Leiden’S Covert Role In Recurrent Miscarriages And First-Time Thromboembolism, Tanner Aldous, Sarah Almarzooqi, Mingran Yu, Jeremy Ellis
The Silent Culprit: Factor V Leiden’S Covert Role In Recurrent Miscarriages And First-Time Thromboembolism, Tanner Aldous, Sarah Almarzooqi, Mingran Yu, Jeremy Ellis
Tower Health Research Day
No abstract provided.
Congenital Heart Defects And Autism: Understanding The Breakdown Of Associated Risk Factors In A Clinically Referred Sample, Elizabeth Raines, Amanda Strasser, Amanda Manderfeld, Paul Glasier, Elizabeth J. Willen
Congenital Heart Defects And Autism: Understanding The Breakdown Of Associated Risk Factors In A Clinically Referred Sample, Elizabeth Raines, Amanda Strasser, Amanda Manderfeld, Paul Glasier, Elizabeth J. Willen
Posters
Background: Children with Congenital Heart Disease (CHD) have higher odds of developing social difficulties and/or an Autism Spectrum Disorder (AuSD) than the general population (i.e., ~10% vs. ~1%). However, there is a paucity of nuanced understanding of specific drivers of the increased rates of AuSD in extant literature. The purpose of this study is to identify the rates of co-occurring cardiac, neurological, and genetic conditions to better understand associated risk factors in a patient sample from a medium-size children’s hospital. Methods: Our population includes a clinically referred sample of children (i.e., medical history of CHD and neurodevelopmental risk) under 18 …
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
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 …
Encephaloceles: A Comprehensive Exploration Of Research, Causes, Prevention, And Innovative Approaches To Diagnosis And Treatment, Amanda N. Bautista
Encephaloceles: A Comprehensive Exploration Of Research, Causes, Prevention, And Innovative Approaches To Diagnosis And Treatment, Amanda N. Bautista
Mako: NSU Undergraduate Student Journal
Encephaloceles, a rare medical condition derived from Greek words meaning "brain hernia," involve the protrusion of brain tissue, cerebrospinal fluid, or membranes through a defect in the skull. These anomalies often present at birth and can occur in various locations on the skull. Recent research has shed light on the possible causes of encephaloceles, including genetic factors such as the Sonic Hedgehog pathway and inadequate folic acid intake during pregnancy. Folic acid is essential for proper neural tube closure during fetal development, making it a key preventive measure.
Emerging treatments for encephaloceles show promise, with a focus on mesenchymal stem …
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
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 …
Digital Clock Drawing As An Alzheimer's Disease Susceptibility Biomarker: Associations With Genetic Risk Score And Apoe In Older Adults, L I Thompson, M Cummings, S Emrani, David J. Libon, A Ang, C Karjadi, R Au, C Liu
Digital Clock Drawing As An Alzheimer's Disease Susceptibility Biomarker: Associations With Genetic Risk Score And Apoe In Older Adults, L I Thompson, M Cummings, S Emrani, David J. Libon, A Ang, C Karjadi, R Au, C Liu
Rowan-Virtua School of Osteopathic Medicine Faculty Scholarship
BACKGROUND: Alzheimer's disease (AD) is the leading cause of dementia in older adults, but most people are not diagnosed until significant neuronal loss has likely occurred along with a decline in cognition. Non-invasive and cost-effective digital biomarkers for AD have the potential to improve early detection.
OBJECTIVE: We examined the validity of DCTclockTM (a digitized clock drawing task) as an AD susceptibility biomarker.
DESIGN: We used two primary independent variables, Apolipoprotein E (APOE) ε4 allele carrier status and polygenic risk score (PRS). We examined APOE and PRS associations with DCTclockTM composite scores as dependent measures.
SETTING: We used existing data …
A Case Of Meckel's Diverticulum Enterolith Causing A Small Bowel Obstruction, Megan Bedard, Alexandra Moody, Emmett Mcguire
A Case Of Meckel's Diverticulum Enterolith Causing A Small Bowel Obstruction, Megan Bedard, Alexandra Moody, Emmett Mcguire
Continental, MidAmerica, & Mountain Divisions Research Day 2024
No abstract provided.
Thyroid Hemiagenesis Associated With Oncocytic Type Follicular Adenoma With Kras Mutation - A Case Report, Sam Joseph, Zhiwei Zhang, Donald Eagerton, Rana Hoda
Thyroid Hemiagenesis Associated With Oncocytic Type Follicular Adenoma With Kras Mutation - A Case Report, Sam Joseph, Zhiwei Zhang, Donald Eagerton, Rana Hoda
South Atlantic Division Research Day 2024
No abstract provided.
Congenital Atrial Septal Defect Presenting With Tamponade Physiology And An Associated Viral Illness, Angel G. Juarez, Gabriela Jhon, Rami N. Khouzam, Randall Goodroe
Congenital Atrial Septal Defect Presenting With Tamponade Physiology And An Associated Viral Illness, Angel G. Juarez, Gabriela Jhon, Rami N. Khouzam, Randall Goodroe
South Atlantic Division Research Day 2024
No abstract provided.
Health And Lifestyle Behavioral Changes To Prevent Myocardial Infarction (Mi): Mixed Methods Approach To Understand Secondary Mi Prevention, Naila Idreesa Saghir
Health And Lifestyle Behavioral Changes To Prevent Myocardial Infarction (Mi): Mixed Methods Approach To Understand Secondary Mi Prevention, Naila Idreesa Saghir
Global Public Health | Senior Theses
Cardiovascular diseases are the leading causes of death globally and about 200,000 individuals experience their second myocardial infarction yearly. There is a lack of understanding about how lifestyle and behavioral changes can prevent secondary myocardial infarction a year in the United States. The objective of this study is to use a mixed methods approach to understand how individuals who have made lifestyle behavioral changes to prevent their secondary myocardial infarction. Surveys and interviews consisted of questions about the participants' health behaviors and health history. Demographics, background information, and lifestyle behavioral changes were measured using Qualtrics. Valid and reliable tools such …
Unraveling Abdominal Heterotaxy Syndrome: A Case Study Of Intractable Nausea And Vomiting In An Adult Female, Allison Yang, Timbre Backen, Michaela Snow, Kyle Combe, Julie Krenz
Unraveling Abdominal Heterotaxy Syndrome: A Case Study Of Intractable Nausea And Vomiting In An Adult Female, Allison Yang, Timbre Backen, Michaela Snow, Kyle Combe, Julie Krenz
Continental, MidAmerica, & Mountain Divisions Research Day 2024
No abstract provided.
Current Education Offerings On Occupational Therapy: Addressing Feeding, Eating, And Swallowing Across The Lifespan, Thilini Abeywickrema, Kate G. Barlow, Janelle Hatlevig, Cuyler Romeo, Tatiana Barcelos Pontes
Current Education Offerings On Occupational Therapy: Addressing Feeding, Eating, And Swallowing Across The Lifespan, Thilini Abeywickrema, Kate G. Barlow, Janelle Hatlevig, Cuyler Romeo, Tatiana Barcelos Pontes
Journal of Occupational Therapy Education
Occupational therapists play a vital role in the care of individuals with feeding, eating, and swallowing (FES) disorders across the lifespan. Although there are certain standards created by the Accreditation Council of Occupational Therapy (ACOTE) for understanding of assessment and management practices specific to FES, there are inconsistencies in how occupational therapy programs in the United States address FES disorders within their curriculum. This cross-sectional exploratory survey study received responses from 54 Master of Occupational Therapy (MSOT) programs and 63 entry-level Occupational Therapy Doctoral (OTD) programs. Survey questions included quantitative and qualitative information on general information regarding FES content taught …
Mcardle Disease Rhabdomyolysis Precipitated By Acetazolamide For Idiopathic Intracranial Hypertension, Shahin Cyrus Owji, Vivian Paraskevi Douglas, Mohammad Pakravan, Chaow Charoenkijkajorn, Andrew G. Lee
Mcardle Disease Rhabdomyolysis Precipitated By Acetazolamide For Idiopathic Intracranial Hypertension, Shahin Cyrus Owji, Vivian Paraskevi Douglas, Mohammad Pakravan, Chaow Charoenkijkajorn, Andrew G. Lee
Gulf Coast Division Research Symposium 2024
No abstract provided.
A Rare Case Of Infected Bronchogenic Cyst Growing Salmonella Enterica, Diane S. Habib, Jordan Torres, Salman Alim
A Rare Case Of Infected Bronchogenic Cyst Growing Salmonella Enterica, Diane S. Habib, Jordan Torres, Salman Alim
Gulf Coast Division Research Symposium 2024
No abstract provided.