Diseases Commons^™

Examining The Effects Of Hyperglycemia On Retinal Regeneration, Emmanuella Ec Kyllians

Theses and Dissertations--Biology

Diabetes is a disease that affects how the body processes glucose, leading to a cascade of other complications, one of which is diabetic retinopathy (DR). DR is a neurovascular disease that affects the retina and research has revealed the role of retinal neurodegeneration in its development. Animal models like zebrafish have emerged as important tools for studying the molecular and cellular mechanisms underlying DR. On the other hand, retinitis pigmentosa (RP) is a degenerative disease that involves the progressive degeneration of rods and cones, and hyperglycemia has been found to impair regeneration. Therefore, this study aims to examine the effects …

Brain Glycogen – Beyond Energy Storage In Glycogen Storage Diseases, Kia H. Markussen

Theses and Dissertations--Molecular and Cellular Biochemistry

Glycogen is a carbohydrate molecule that is traditionally viewed as a convenient and easily accessible energy storage form of glucose. However,emerging evidence supports the role of glycogen as more than a glucose storage form. During the last 20 years, glycogen has been shown to play pivotal roles in learning and memory, signaling events, viscosity, protein glycosylation, and be acritical hallmark in devastating diseases. Not only, does glycogen play a role as an energy substrate and critical metabolite during energy deprivation, glycogen is central for neurotransmitter homeostasis, tumor initiation, and ontributes to proper protein glycosylation in the brain. In this work, …

Physiologically-Based Pharmacokinetic (Pbpk) Modeling For The Preclinical Development Of Spectinamide Antibiotics, Keyur R. Parmar

Theses and Dissertations (ETD)

Despite being an ancient disease caused by Mycobacterium tuberculosis (Mtb) and after decades of research, tuberculosis (TB) still affects millions of people every year worldwide. In 2018, the World Health Organization (WHO) reported that 10 million people developed tuberculosis and 1.5 million died of the disease. With the increase in the multidrug-resistant (MDR) and extensively drug-resistant (XDR) cases, the treatment for TB with the standard first and second-line therapy is becoming increasingly difficult. Therefore, there is an urgent need to find new anti-TB drugs as combination partners of existing and experimental classes of antimicrobial agents to shorten and simplify the …

"Keep Your Chin Up, And Keep Eating": Perceptions Of Barriers And Facilitators To Healthful Dietary Behaviors Among Individuals With Gastrointestinal Cancer And Caregivers, Brandy-Joe Milliron, Cynthia Klobodu, Jonathan Deutsch, Karon Martyn, Dan Dychtwald, Emily Riahi, Shawn Carro, Taylor Hisek, Natalie Darcy, Ann C. Klassen

Kimmel Cancer Center Faculty Papers

BACKGROUND: This study explored perceptions of barriers and facilitators to healthful dietary behaviors among patients with gastrointestinal (GI) cancer and their caregivers, including caregiver preparedness, patient and caregiver self-efficacy for symptom management, and other environmental, social, and familial factors that may serve as barriers and facilitators to healthful eating.

METHODS: Using a concurrent mixed methods cross-sectional study design, individuals with GI cancer receiving outpatient chemotherapy and their caregivers completed surveys, dietary assessments, and interviews. Caregiving preparedness, self-efficacy for symptom management, and dietary intake were assessed using validated instruments. Dietary quality was measured using the Healthy Eating Index (HEI)-2020. In-depth interviews …

Robinson’S Cytological Grading Of Breast Carcinoma On Fine Needle Aspirates And Its Correlation With Modified Bloom-Richardson Histopathological Grading For Breast Carcinoma, Dr.Siddhartha Ghelani Assistant Professor, Dr.Hemina Desai Professor, Dr.Shreya Solanki Assistant Professor

Digital Journal of Clinical Medicine

Introduction:Grading of breast carcinoma on fine needle aspiration cytology provides useful information about prognosis & also beneficial for selecting patients for neoadjuvant chemotherapy.

Aim: To grade the breast carcinoma on FNAC using Robinson grading system and to assess the concordance of cytological grading (CG) with histological grading (HG) using Elston‑Ellis modification of Scarff‑Bloom‑Richardson grading system.

Material method:This prospective study was done in Department of pathology, B.J medical college & Hospital Ahemdabad from Augustl 2016 to october 2018. A total of 200 cases of cytologically confirmed breast carcinoma were included in this study and correlated with histopathological findings. …

Diagnostic Dilemma: Schwannoma Or Ganglion Cyst, Karthik Ks, Prakash M, Gurumurthy B, Sujanatheja Js, Pramod Bm, Punith N

Digital Journal of Clinical Medicine

Schwannomas are rare, slow growing benign tumors of peripheral nerve sheath originating from Schwann cells surrounding the nerve associated with delayed presentation of pain and paresthesia. Their incidence being 5% of all upper extremity tumors. They may be a part of neurofibromatosis called schwannomatosis with multiple peripheral schwannomas. We present a case of solitary schwannomas from the peripheral nerves probably superficial branch of median nerve mistaken initially for ganglion cyst.

Awareness Of The Role Of Nutrition In Cancer Causation And Prevention Among Rural Adult Population: A Cross-Sectional Study, Sayana Basheer, Kavya G. Upadhya, Sana Khader M

Digital Journal of Clinical Medicine

Background

In recent years, nutrition has received an increasingly important role in the aetiology of cancer. Thus, public education about dietary factors associated with cancer risk or prevention could be an important intervention for cancer prevention, particularly in low- and middle-income countries where the burden of cancer is increasing rapidly and access to care is limited. This study aimed to assess the awareness among rural adults about the role of nutrition in cancer development and its prevention.

Methods

A cross-sectional study was conducted among 300 individuals in the adult population (> 18 years) in rural field practice area of a …

Exploring The Evolution Of Trypanosoma Cruzi And The Emergence Of Chagas Disease In The Context Of Environmental Change: Applying The Stockholm Paradigm To Archaeoparasitology, Part I, Aida Romera Barbera, Daniel R. Brooks, T. Michael Fink, Karl J. Reinhard

Karl Reinhard Publications

The Stockholm Paradigm is an evolutionary synthesis that explains the emergence of novel pathogens in the context of environmental disturbances. Considering the urgent climate change situation, anticipation stands as key to prevent and mitigate the effects that climate change can have in the emergence of pathogens. However, the success of preventive measures is hindered by a limited knowledge of the interplaying dynamics between biology, environment, and culture leading to emerging infectious diseases. For many decades, bioarchaeologists have been gathering data on past human-environment interactions, therefore contributing to the conversation. Archaeoparasitology, at the intersection between pathology, bioarchaeology, and biology, is uniquely …

Documenting The Presence Of Chagas Disease In Prehistoric North America: Applying The Stockholm Paradigm To Archaeoparasitology, Part Ii, Karl J. Reinhard, Daniel R. Brooks, Aida Romera Barbera, T. Michael Fink

Karl Reinhard Publications

The DAMA protocol (Document, Assess, Monitor, Act) is the applied aspect of the Stockholm Paradigm. Evidence from archaeology and history of medicine has a demonstrated value in documenting infection risk for specific study areas. Bioarchaeological remains and historical documents show vivid examples of pathology related to the Chagas disease life cycle. The science of archaeology defines the lifestyles that created risk of triatomine kissing bug infestations and trypanosome protozoa infections. Paleogenetics, in the form of molecular analyses of Trypanosoma cruzi, elucidate the temporal origins of genetic variants and adaptation to human environments. We illustrate how these fields reveal the risk …

Extracorporeal Membrane Oxygenation Cannulation Timing In The Pediatric Myocarditis Population: An Exploratory Analysis From The Extracorporeal Life Support Organization Registry, Maria E Gutierrez, Marc Anders, Danielle Guffey, Susan W Denfield, Shriprasad R Deshpande, Satish K Rajagopal, Ravi R Thiagarajan, Peta M A Alexander, Javier J Lasa

Faculty, Staff and Students Publications

Children presenting with acute myocarditis may experience rapid clinical deterioration requiring extracorporeal membrane oxygenation (ECMO); however, our understanding of best practices and timing of ECMO initiation are lacking. We explored the relationships between pre-cannulation factors and survival in this high-acuity patient population.

DESIGN: Retrospective review of a large international registry. Primary outcome was survival to hospital discharge, stratified by incident cardiac arrest (CA) prior to ECMO and time to cannulation after intubation.

SETTING AND SUBJECTS: The Extracorporeal Life Support Organization registry was queried for patients less than or equal to 18 years old receiving ECMO support for myocarditis between 2007 …

Proposing An Rna Interference (Rnai)-Based Treatment For Human Immunodeficiency Virus (Hiv) By Analyzing The Post-Transcriptional Gene Targeting Of Sars-Cov-2, Hepatitis C Virus, And A549 Lung Cancer Cells, Arjun Jagdeesh

Undergraduate Research Posters

Human Immunodeficiency Virus (HIV) is a retrovirus that infects CD4+ T cell lymphocytes in humans, leading to the development of Acquired Immunodeficiency Syndrome (AIDS) if left untreated. While current treatment methods, including antiretroviral combination treatments, effectively limit HIV replication, HIV can evade these treatments due to its high mutation rate. Long-term antiretroviral treatment can also be toxic to patients, meaning patients would benefit from a new mechanism of HIV treatment. RNA interference (RNAi) is an antiviral pathway found in mammals, plants, and insects that involves a small-interfering RNA that is incorporated into a protein complex called the RNA-induced Silencing Complex …

The Role Of The Nlrp3 Inflammasome In Alzheimer's Disease, Ethan S. Terman

Undergraduate Research Posters

This study examines the consequences of Alzheimer’s in rat and mice test subjects. The goal is to identify the effects of certain NLRP3 inhibiting drugs and to see if there are any noticeable effects in regards to impeding the pathological development of Alzheimer’s disease. The results are visualized by implementing the immunohistochemical process to identify neurodegeneration in the brain and to assess the expression levels of amyloid beta as an indicator of Alzheimer’s pathology. Other tests are also conducted on these transgenic mice to gauge cognitive functioning levels during the onset of their disease, those being behavior tests, but not …

Editorial: Identifying Genetics-Based Mechanisms And Treatments For Neurodevelopmental And Psychiatric Disorders Through Data Integration, Kaifang Pang, Li Wang, Suhua Chang

Faculty, Staff and Students Publications

No abstract provided.

Protocol For The Promoting Resilience In Stress Management (Prism) Intervention: A Multi-Site Randomized Controlled Trial For Adolescents With Type 1 Diabetes, Maeve B O'Donnell, Samantha R Scott, Britney M Ellisor, Viena T Cao, Chuan Zhou, Miranda C Bradford, Catherine Pihoker, Daniel J Desalvo, Faisal S Malik, Marisa E Hilliard, Abby R Rosenberg, Joyce P Yi-Frazier

Faculty, Staff and Students Publications

BACKGROUND: Adolescents with type 1 diabetes (T1D) are at high risk for elevated diabetes distress, which greatly impacts diabetes management, glycemic outcomes and overall quality of life. Developing protective skills and "resilience resources" to navigate adversity and manage diabetes distress has high potential to help adolescents with T1D achieve optimal behavioral, psychological, and health outcomes. The "Promoting Resilience in Stress Management" (PRISM) program is a manualized, brief, skills-based intervention delivered over 6 months via two 45-60 min one-on-one sessions and a family meeting with a PRISM coach, and supplemented by booster calls and a digital app. This trial (PRISM versus …

The Experiences Of Parents Diagnosed With Cancer Whilst Parenting Minor-Aged Children, George Prince

Theses

The incidence of cancer in Australia for people in the parenting age range is significant, and as the fertility rate of women aged 35 years and over continues to rise, many cancer patients may be parenting minor-aged children. The aim of this research was therefore to explore the lived experience of parents diagnosed with cancer whilst parenting minor-aged children, and to gain knowledge and understanding as to how parents and their families respond to a parent’s cancer illness. Utilising a qualitative research design, eight participants, receiving treatment for cancer in a private hospital cancer treatment service, and parenting at least …

Semi-Automated Construction Of Patient-Specific Aortic Valves From Computed Tomography Images, Dan Lior, Charles Puelz, Colin Edwards, Silvana Molossi, Boyce E Griffith, Ravi K Birla, Craig G Rusin

Faculty, Staff and Students Publications

This paper presents a semi-automatic method for the construction of volumetric models of the aortic valve using computed tomography angiography images. Although the aortic valve typically cannot be segmented directly from a computed tomography angiography image, the method described herein uses manually selected samples of an aortic segmentation derived from this image to inform the construction. These samples capture certain physiologic landmarks and are used to construct a volumetric valve model. As a demonstration of the capabilities of this method, valve models for 25 pediatric patients are created. A selected valve anatomy is used to perform fluid-structure interaction simulations using …

Pediatric Traumatic Hemorrhagic Shock Consensus Conference Research Priorities, Robert T Russell, Melania M Bembea, Matthew A Borgman, Randall S Burd, Barbara A Gaines, Mubeen Jafri, Cassandra D Josephson, Christine M Leeper, Julie C Leonard, Jennifer A Muszynski, Kathleen K Nicol, Daniel K Nishijima, Paul A Stricker, Adam M Vogel, Trisha E Wong, Philip C Spinella

Faculty, Staff and Students Publications

BACKGROUND: Traumatic injury is the leading cause of death in children and adolescents. Hemorrhagic shock remains a common and preventable cause of death in the pediatric trauma patients. A paucity of high-quality evidence is available to guide specific aspects of hemorrhage control in this population. We sought to identify high-priority research topics for the care of pediatric trauma patients in hemorrhagic shock.

METHODS: A panel of 16 consensus multidisciplinary committee members from the Pediatric Traumatic Hemorrhagic Shock Consensus Conference developed research priorities for addressing knowledge gaps in the care of injured children and adolescents in hemorrhagic shock. These ideas were …

Pediatric Traumatic Hemorrhagic Shock Consensus Conference Recommendations, Robert T Russell, Joseph R Esparaz, Michael A Beckwith, Peter J Abraham, Melania M Bembea, Matthew A Borgman, Randall S Burd, Barbara A Gaines, Mubeen Jafri, Cassandra D Josephson, Christine Leeper, Julie C Leonard, Jennifer A Muszynski, Kathleen K Nicol, Daniel K Nishijima, Paul A Stricker, Adam M Vogel, Trisha E Wong, Philip C Spinella

Faculty, Staff and Students Publications

Hemorrhagic shock in pediatric trauma patients remains a challenging yet preventable cause of death. There is little high-quality evidence available to guide specific aspects of hemorrhage control and specific resuscitation practices in this population. We sought to generate clinical recommendations, expert consensus, and good practice statements to aid providers in care for these difficult patients.The Pediatric Traumatic Hemorrhagic Shock Consensus Conference process included systematic reviews related to six subtopics and one consensus meeting. A panel of 16 consensus multidisciplinary committee members evaluated the literature related to 6 specific topics: (1) blood products and fluid resuscitation for hemostatic resuscitation, (2) utilization …

Diagnostic Performance Of Point-Of-Use Ultrasound Of Resuscitation Outcomes: A Systematic Review And Meta-Analysis Of 3265 Patients, Maciej Dudek, Lukasz Szarpak, Frank W Peacock, Aleksandra Gasecka, Tomasz Michalski, Pawel Wroblewski, Halla Kaminska, Gabriela Borkowska, Ewa Skrzypek, Adam Smereka, Jaroslaw Meyer-Szary, Sylwia Marciniak, Mariola Malecka

Faculty, Staff and Students Publications

BACKGROUND: Echocardiography in the setting of resuscitation can provide information as to the cause of the cardiac arrest, as well as indicators of futility. This systematic review and meta-analysis were performed to determine the value of point-of-care ultrasonography (PoCUS) in the assessment of survival for adult patients with cardiac arrest.

METHODS: This meta-analysis was performed in adherence to the Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) guidelines. PubMed, EMBASE, Web of Science, Cochrane have been searched from databases inception until March 2nd 2021. The search was limited to adult patients with cardiac arrest and without publication dates or …

Meta-Analysis Of Chest Compression-Only Versus Conventional Cardiopulmonary Resuscitation By Bystanders For Adult With Out-Of-Hospital Cardiac Arrest, Karol Bielski, Jacek Smereka, Jaroslaw Chmielewski, Michal Pruc, Francesco Chirico, Aleksandra Gasecka, Nataliia Litvinova, Milosz J Jaguszewski, Grazyna Nowak-Starz, Zubaid Rafique, Frank W Peacock, Lukasz Szarpak

Faculty, Staff and Students Publications

BACKGROUND: According to the guidelines of cardiopulmonary resuscitation (CPR) conducted by bystanders, two methods of CPR are feasible: standard CPR (sCPR) with mouth-to-mouth ventilations and continuous chest compression-only CPR (CCC) without rescue breathing. The goal herein, was to evaluate the effect of sCPR (30:2) and CCC on resuscitation outcomes in patients with out-of-hospital cardiac arrest (OHCA) patients.

METHODS: This study was a systematic review and meta-analysis. Using standardized criteria, Pub- Med, Web of Science, Scopus, EMBASE and Cochrane Collaboration were searched for trials assessing the effect of sCPR vs. CCC on resuscitation outcomes after adult OHCA. Random-effects model meta-analysis was …

Peyronie's Disease: An Outcomes-Based Guide To Non-Surgical And Novel Treatment Modalities, Amit G Reddy, Michelle C Dai, Jeffrey J Song, Hudson M Pierce, Sagar R Patel, Larry I Lipshultz

Faculty, Staff and Students Publications

The clinical landscape of Peyronie's disease is everchanging. There has been growing interest in non-invasive therapeutic options that could assist patients with achieving a meaningful reduction in penile curvature without surgical intervention. These therapies are wide-ranging in terms of their mechanisms of action, efficacies, and short- and long-term safety profiles. Recently, an abundance of outcomes literature on longstanding and novel non-surgical treatment modalities has been published. For sexual medicine providers hoping to offer patients the most up-to-date and evidence-based treatments for the management of Peyronie's disease, it can be challenging to gain a thorough understanding of this body of literature. …

The Epidemiology Of Cephalosporin Allergy Labels In Pediatric Primary Care, Torsten Joerger, Margaret G Taylor, Debra L Palazzi, Jeffrey S Gerber

Faculty, Staff and Students Publications

BACKGROUND: Recent studies have sought to understand the epidemiology and impact of beta-lactam allergy labels on children; however, most of these studies have focused on penicillin allergy labels. Fewer studies assess cephalosporin antibiotic allergy labels in children. The objective of this study was to determine the prevalence, factors associated with, and impact of cephalosporin allergy labels in children cared for in the primary care setting.

METHODS: Cephalosporin allergy labels were reviewed among children in a dual center, retrospective, birth cohort who were born between 2010 and 2020 and followed in 90 pediatric primary care practices. Antibiotic prescriptions for acute otitis …

Review Of Acute Kidney Injury And Progression To Chronic Kidney Disease In Pediatric Patients Undergoing Hematopoietic Cell Transplant, Kim T Vuong, Catherine Joseph, Joseph R Angelo

Faculty, Staff and Students Publications

While acute kidney injury (AKI) after hematopoietic cell transplant (HCT) has been well-described in pediatric patients, literature regarding the long term renal consequences of HCT-related AKI, the development of chronic kidney disease (CKD), and CKD care in pediatric patients post-HCT is limited. CKD affects almost 50% of patients after HCT with multifactorial etiology including infection, nephrotoxic medications, transplant-associated thrombotic microangiopathy, graft-versus-host disease, and sinusoidal obstruction syndrome. As renal function declines in CKD, eventually progressing to end stage kidney disease (ESKD), mortality increases and is more than 80% among patients requiring dialysis. Using society guidelines and current literature, this review summarizes …

A Rapid, Low-Cost, And Highly Sensitive Sars-Cov-2 Diagnostic Based On Whole-Genome Sequencing, Per A Adastra, Neva C Durand, Namita Mitra, Saul Godinez Pulido, Ragini Mahajan, Alyssa Blackburn, Zane L Colaric, Joshua W M Theisen, David Weisz, Olga Dudchenko, Andreas Gnirke, Suhas S P Rao, Parwinder Kaur, Erez Lieberman Aiden, Aviva Presser Aiden

Faculty, Staff and Students Publications

Early detection of SARS-CoV-2 infection is key to managing the current global pandemic, as evidence shows the virus is most contagious on or before symptom onset. Here, we introduce a low-cost, high-throughput method for diagnosing and studying SARS-CoV-2 infection. Dubbed Pathogen-Oriented Low-Cost Assembly & Re-Sequencing (POLAR), this method amplifies the entirety of the SARS-CoV-2 genome. This contrasts with typical RT-PCR-based diagnostic tests, which amplify only a few loci. To achieve this goal, we combine a SARS-CoV-2 enrichment method developed by the ARTIC Network (https://artic.network/) with short-read DNA sequencing and de novo genome assembly. Using this method, we can reliably ( …

Multiomics, Artificial Intelligence, And Precision Medicine In Perinatology, Mohan Pammi, Nima Aghaeepour, Josef Neu

Faculty, Staff and Students Publications

Technological advances in omics evaluation, bioinformatics, and artificial intelligence have made us rethink ways to improve patient outcomes. Collective quantification and characterization of biological data including genomics, epigenomics, metabolomics, and proteomics is now feasible at low cost with rapid turnover. Significant advances in the integration methods of these multiomics data sets by machine learning promise us a holistic view of disease pathogenesis and yield biomarkers for disease diagnosis and prognosis. Using machine learning tools and algorithms, it is possible to integrate multiomics data with clinical information to develop predictive models that identify risk before the condition is clinically apparent, thus …

Spatial Analysis Of Nanoparticle Distribution In Human Breast Xenografts Reveals Nanoparticles Targeted To Cancer Cells Localized With Tumor-Associated Stromal Cells, Sean Healy, Elizabeth T Henderson, Suqi Ke, Jacqueline Kelly, Brian W Simons, Chen Hu, Robert Ivkov, Preethi Korangath

Faculty, Staff and Students Publications

The biological influence of physicochemical parameters of “targeted” nanoparticles on their delivery to cancer tumors remains poorly understood. A comparative analysis of nanoparticle distributions in tumors following systemic delivery across several models can provide valuable insights.

Methods: Bionized nanoferrite nanoparticles (iron oxide core coated with starch), either conjugated with a targeted anti-HER2 antibody (BH), or unconjugated (BP), were intravenously injected into athymic nude or NOD-scid gamma (NSG) female mice bearing one of five human breast cancer tumor xenografts growing in a mammary fat pad. Tumors were harvested 24 hours after nanoparticle injection, fixed, mounted, and stained. We performed detailed histopathology …

Forniceal Deep Brain Stimulation In A Mouse Model Of Rett Syndrome Increases Neurogenesis And Hippocampal Memory Beyond The Treatment Period, Qi Wang, Bin Tang, Shuang Hao, Zhenyu Wu, Tingting Yang, Jianrong Tang

Faculty, Staff and Students Publications

BACKGROUND: Rett syndrome (RTT), caused by mutations in the X-linked gene encoding methyl-CpG binding protein 2 (MeCP2), severely impairs learning and memory. We previously showed that forniceal deep brain stimulation (DBS) stimulates hippocampal neurogenesis with concomitant improvements in hippocampal-dependent learning and memory in a mouse model of RTT.

OBJECTIVES: To determine the duration of DBS benefits; characterize DBS effects on hippocampal neurogenesis; and determine whether DBS influences MECP2 genotype and survival of newborn dentate granular cells (DGCs) in RTT mice.

METHODS: Chronic DBS was delivered through an electrode implanted in the fimbria-fornix. We tested separate cohorts of mice in contextual …

Immunomodulatory Proteins From Hookworms Reduce Cardiac Inflammation And Modulate Regulatory Responses In A Mouse Model Of Chronic Trypanosoma Cruzi Infection, Kathryn M Jones, Bin Zhan, Keenan J Ernste, Maria Jose Villar, Nalini Bisht, Duc Nguyen, Li-Yen Chang, Cristina Poveda, Gonteria J Robinson, Akshar J Trivedi, Colby J Hofferek, William K Decker, Vanaja Konduri

Faculty, Staff and Students Publications

Introduction

Hookworms are parasitic helminths that secrete a variety of proteins that induce anti-inflammatory immune responses, stimulating increased CD4+Foxp3+ regulatory T cells and IL-10 production. Hookworm-derived recombinant proteins AIP-1 and AIP-2 have been shown to reduce inflammation in mouse models of inflammatory bowel disease and inflammatory airway disease by inducing CD4+Foxp3+ cells and IL-10 production. In contrast, chronic infection with the protozoal parasite Trypanosoma cruzi, the causative agent of Chagas disease, leads to chronic inflammation in tissues. Persistence of the parasites in tissues drives chronic low-grade inflammation, with increased infiltration of inflammatory cells into the heart, accompanied by increased …

A Multicenter Cross-Sectional Study In Infants With Congenital Heart Defects Demonstrates High Diagnostic Yield Of Genetic Testing But Variable Evaluation Practices, Matthew D Durbin, Lindsey R Helvaty, Ming Li, William Border, Sara Fitzgerald-Butt, Vidu Garg, Gabrielle C Geddes, Benjamin M Helm, Seema R Lalani, Kim L Mcbride, Alexis Mcentire, Dana K Mitchell, Chaya N Murali, Stephanie B Wechsler, Benjamin J Landis, Stephanie M Ware

Faculty, Staff and Students Publications

PURPOSE: For patients with congenital heart disease (CHD), the most common birth defect, genetic evaluation is not universally accepted, and current practices are anecdotal. Here, we analyzed genetic evaluation practices across centers, determined diagnostic yield of testing, and identified phenotypic features associated with abnormal results.

METHODS: This is a multicenter cross-sectional study of 5 large children's hospitals, including 2899 children ≤14 months undergoing surgical repair for CHD from 2013 to 2016, followed by multivariate logistics regression analysis.

RESULTS: Genetic testing occurred in 1607 of 2899 patients (55%). Testing rates differed highly between institutions (42%-78%, P < .001). Choice of testing modality also differed across institutions (ie, chromosomal microarray, 26%-67%, P < .001). Genetic testing was abnormal in 702 of 1607 patients (44%), and no major phenotypic feature drove diagnostic yield. Only 849 patients were seen by geneticists (29%), ranging across centers (15%-52%, P < .001). Geneticist consultation associated with increased genetic testing yield (odds ratio: 5.7, 95% CI 4.33-7.58, P < .001).

CONCLUSION: Genetics …

Clinical Hypoxemia Score For Outpatient Child Pneumonia Care Lacking Pulse Oximetry In Africa And South Asia, Holly B Schuh, Shubhada Hooli, Salahuddin Ahmed, Carina King, Arunangshu D Roy, Norman Lufesi, Asmd Ashraful Islam, Tisungane Mvalo, Nabidul H Chowdhury, Amy Sarah Ginsburg, Tim Colbourn, William Checkley, Abdullah H Baqui, Eric D Mccollum

Faculty, Staff and Students Publications

BACKGROUND: Pulse oximeters are not routinely available in outpatient clinics in low- and middle-income countries. We derived clinical scores to identify hypoxemic child pneumonia.

METHODS: This was a retrospective pooled analysis of two outpatient datasets of 3-35 month olds with World Health Organization (WHO)-defined pneumonia in Bangladesh and Malawi. We constructed, internally validated, and compared fit & discrimination of four models predicting SpO

RESULTS: 12,712 observations were included. The independent and composite LASSO models discriminated moderately (both C-statistic 0.77) between children with a SpO

CONCLUSIONS: In the absence of pulse oximeters, both LASSO models better identified outpatient hypoxemic pneumonia cases …