Medicine and Health Sciences Commons^™

Effect Of Body Mass Index Percentile On Complicated Appendicitis, Postoperative Complications And Health Service Utilization Among Pediatric Patients In The United States, Nutan Hebballi

Dissertations and Theses (Open Access)

While overweight and obesity have been extensively studied for complicated appendicitis, postoperative complications, and health service utilization, the effects of being underweight are unknown. This dissertation assesses the associations between the body mass index (BMI) spectrum with complicated appendicitis, postoperative complications, and healthcare service utilization in pediatric patients.  A retrospective review of pediatric patients who underwent appendectomy surgery (01/01/2016-12/31/2020) was conducted using the National Surgical Quality Improvement Program database. Computed age and gender-specific BMI percentiles were categorized into underweight, normal weight, overweight and obese. The 30-day postoperative complications were grouped into minor, major, and any. Healthcare service utilizations were compared …

Standard Atrial Epicardial Wire Placement Leads To Improved Atrial Signal Identification And Pacemaker Sensing, Nir Atlas, William Gibson, J Hermsen, A Harmon, J Torgeson, Lindsey Malloy-Walton, N Von Bergen

Posters

Background: Atrial arrhythmias are common after pediatric cardiac surgery and are associated with increased morbidity and mortality. Atrial epicardial wires (AEW), utilized to diagnose and treat atrial arrhythmias, are known to malfunction during post-operative care. There are no pediatric prospective studies examining ideal placement of AEW. Methods: This prospective multicenter pilot study compared atrial amplitudes, pacing sensitivities and thresholds via AEW placed at Bachmann’s Bundle (BB) and the right-sided interatrial groove (RSIG) versus the surgeon’s standard placement (control locations) in 26 patients aged less than six years old undergoing cardiac surgery. Participants received four total AEW - two at the …

Treatment Of Post-Operative Pain In Children With Severe Neurologic Impairment, Jordan Keys, Jessica L. Bettenhausen, Jessica L. Markham, Matthew Hall

Posters

Introduction The assessment of pain in children with severe neurologic impairment (SNI) can be more challenging than in neurotypical children. Objective To describe: 1) the type, number of classes, and duration of post-operative pain medications for common procedures among children with SNI and 2) the variability in pain management strategies across children's hospitals, specifically for opioid administration. Methods This retrospective cohort study, using the Pediatric Health Information System database, included children aged 0-21 years hospitalized with SNI who underwent common procedures during 2019. We defined SNI using previously described high-intensity neurologic impairment (HINI) diagnosis codes and identified six common ( …

The Incidence And Modifiable Risk Factors For Necrotizing Enterocolitis Inpreterm Infants A Retrospective Cohort Study, Kelvin Gitau, Roseline Ochieng, Mary Limbe, Caroline Kathomi, James Orwa

Paediatrics and Child Health, East Africa

Objectives: To evaluate the incidence and modifiable risk factors for Necrotizing enterocolitis (NEC) in preterm infants born at ≤32 weeks of gestation weighing <1500 grams, at a private tertiary care hospital in Kenya.

Materials and methods: This retrospective cohort study was conducted at the Aga Khan University Hospital Neonatal Intensive Care Unit (NICU). Preterm infants born at ≤ 32 weeks’ gestation and weighing <1500 grams admitted to NICU between 2009 and 2019, were recruited into the study. The primary outcome was NEC Bell Stage IIa-IIIb based on Modified Bell’s criteria. Maternal and neonatal characteristics were evaluated. The association between variables of interest and NEC was determined using logistic regression analysis and the incidence of NEC for the study period was calculated.

Results: A total of 261 charts of infants born at ≤ 32 weeks’ gestation, weighing <1500 were reviewed, and 200 charts met the inclusion criteria. Fifteen preterm infants developed the primary outcome of interest: NEC Stage ≥2a within the first 30 days of admission. The overall incidence of NEC for the study period was 7.5%. Three risk factors were identified as significantly associated with NEC on multivariate logistic regression analysis: antenatal exposure to steroids (OR = 0.056 CI = 0.003-0.964 p = 0.047), cumulative duration of exposure to invasive mechanical ventilation (OR = 2.172 CI = 1.242-3.799 p = 0.007) and cumulative duration of exposure to umbilical vein catheter (OR = 1.344 CI = 1.08-1.672 p = 0.008).

Conclusions: The overall incidence for the study period of NEC Stage ≥ II a was 7.5%. Exposure to antenatal steroids, duration of mechanical ventilation, and duration of umbilical vein catheterization were …

Hyperbilirubinemia, Children's Mercy Kansas City

Clinical Pathways

No abstract provided.

Ultrastructure For The Diagnosis Of Primary Ciliary Dyskinesia In South Africa, A Resource-Limited Setting, Monica Birkhead, Samuel Otido, Theodore Mabaso, Keketso Mopeli, Dorcas Tlhapi, Charl Verwey, Ziyaad Dangor

Paediatrics and Child Health, East Africa

Introduction: International guidelines recommend a multi-faceted approach for successful diagnoses of primary ciliary dyskinesia (PCD). In the absence of a gold standard test, a combination of genetic testing/microscopic analysis of structure and function/nasal nitric oxide measurement is used. In resourcelimited settings, often none of the above tests are available, and in South Africa, only transmission electron microscopy (TEM) is available in central anatomical pathology departments. The aim of this study was to describe the clinical and ultrastructural findings of suspected PCD cases managed by pediatric pulmonologists at a tertiary-level state funded hospital in Johannesburg.

Methods: Nasal brushings were …

Superficial Thrombophlebitis In Ipsilateral Breast After Covid-19 Vaccination, Zhichao Zhou, Patricia Q Tran, Alyssa M Adams, Kristopher Kieft, John A Breier, Caroline S Fortunato, Cody S Sheik, Julie A Huber, Meng Li, Gregory J Dick, Karthik Anantharaman

Faculty, Staff and Student Publications

In globally distributed deep-sea hydrothermal vent plumes, microbiomes are shaped by the redox energy landscapes created by reduced hydrothermal vent fluids mixing with oxidized seawater. Plumes can disperse over thousands of kilometers and their characteristics are determined by geochemical sources from vents, e.g., hydrothermal inputs, nutrients, and trace metals. However, the impacts of plume biogeochemistry on the oceans are poorly constrained due to a lack of integrated understanding of microbiomes, population genetics, and geochemistry. Here, we use microbial genomes to understand links between biogeography, evolution, and metabolic connectivity, and elucidate their impacts on biogeochemical cycling in the deep sea. Using …

Growth Hormone Deficiency: When Is Mri Imaging Indicated?, Haya Azouz, Kurt Tech, M Bassem Dekelbab

Conference Presentation Abstracts

Objectives The diagnosis of Growth Hormone Deficiency (GHD) is made with a combination of clinical assessment, measurement of insulin-like growth factor 1 (IGF-1) and insulin-like growth factor binding protein-3 (IGFBP-3) levels, and GH stimulation tests. Provocative (stimulation) GH testing is indicated for most patients to confirm a diagnosis of GHD. Traditionally, most pediatric endocrinologists defined a "normal" response by a serum GH concentration of >10 ng/ml. After the clinical and biochemical diagnosis of GHD is made, it is typical to obtain an MRI of the brain with narrow cuts through the hypothalamic-pituitary area. The aim of our study is to …

Role Of Hospital Leadership In Pandemic Preparedness: Experience At A Tertiary Hospital In Kenya During The Covid-19 Pandemic, Lucy Mwangi, William Macharia, Benjamin Wachira, Jemimah Kimeu, Boniface Mativa, Lukoye Atwoli

Paediatrics and Child Health, East Africa

Introduction: Pandemic preparedness refers to being ready for, responding to and recovering from public health crises, and is integral for health security. Hospital leadership is a critical building block of an effective healthcare system, providing policy, accountability and stewardship in a health crisis.

Objectives and methods: We aimed to describe the leadership and governance structures put in place at the Aga Khan University Hospital, Nairobi, a private not-forprofit tertiary healthcare facility, following the COVID-19 pandemic. We reviewed over 200 hospital documents archived in the COVID-19 repository including those received from the Kenya Ministry of Health, emails, memos, bulletins, meeting minutes, …

Development Of A Kineisophobia Scale For Adolescents With Heart Disease: A Preliminary Analysis Of Validity And Reliability, David A. White, Jami Gross-Toalson, Emily Cramer, Lindsey Malloy-Walton, Mollie Walton, Laura Martis, Brandy Enneking, Kelli M. Teson, Jessica S. Watson, Dara Watkins, William R. Black

Posters

No abstract provided.

Delirium On Admission To The Cicu, Spencer Wittmeyer, Jaime Silva-Gburek, Kelly S. Tieves

Posters

Background: Delirium is increasingly recognized in the pediatric cardiac intensive care unit (CICU) with an incidence up to 67% and is associated with worse outcomes including increased mortality, prolonged hospitalization, and increased rates of intubation and mechanical circulatory support. The Cornell Assessment for Pediatric Delirium (CAPD) is the only validated tool for the diagnosis of delirium in the pediatric population. The CAPD may be limited in children with developmental disabilities as it does not account for baseline ability in scoring. Prior work has identified low specificity for the CAPD in children with developmental disabilities and those requiring mechanical ventilation. This …

Identification Of Critical Illness-Related Corticosteroid Insufficiency After Congenital Heart Surgery With Next Generation Sequencing, Juan S. Farias, Nicholas Diehl, Lori A. Erickson, Jenny Marshall, Nataliya Kibiryeva, Kelly S. Tieves, Jorge Cross-Bu, Jaime Silva-Gburek

Posters

Introduction: Critical illness-related corticosteroid insufficiency (CIRCI) which is characterized by relative inadequate cortisol levels in relation to increased demand during periods of severe stress is common after cardiac surgery and is a cause of hemodynamic instability. The purpose of this study was to identify possible genetic abnormalities related to CIRCI in pediatric patients after congenital heart surgery. Methods: Single-center retrospective study of neonates who underwent cardiac surgery between August 2018 to July 2020. We included patients who had obtained postoperative cortisol levels and next gen DNA-sequencing (NGS) as previous standard of care. Analysis methods are displayed in Figure 1. Results: …

An Unusual Cardiomegaly Culprit: Case Report Of A Hemodynamically Significant Portosystemic Shunt, Zoetta L. Mcloughlin Md, Melanie Kathol, Amanda Mcintosh

Posters

Background: Cardiomegaly discovered in the fetal or neonatal period may be the first sign of cardiac disease. However, the differential diagnosis for cardiomegaly with a structurally and functionally normal heart includes cardiomyopathies as well as non-cardiac etiologies, including extracardiac shunt lesions and vascular malformations, among others. Thus, unexplained cardiomegaly requires further investigation for extracardiac anomalies. In this case, we focus on an unusual etiology of diffuse cardiac dilatation – intrahepatic portosystemic shunt – that was initially misdiagnosed as dilated cardiomyopathy. Case Description: A 9-year-old male with history of learning difficulty and tall stature was seen for follow-up of diffuse cardiomegaly …

Multi-Disciplinary Collaboration And The Use Of Technology In The Reduction Of Cardiac Surgical Site Infections, Kelly Fehlhafer, Tiffany Mullen, Elizabeth Chang, Stacy Reynolds, Shannon Lysaught, Stephanie Doughty, Jessica Nichols

Posters

No abstract provided.

Associations Of Biomarkers Of Kidney Tubule Health, Injury, And Inflammation With Left Ventricular Hypertrophy In Children With Ckd., Kuan Jiang, Jason H. Greenberg, Alison Abraham, Yunwen Xu, Jeffrey R. Schelling, Harold I. Feldman, Sarah J. Schrauben, Sushrut S. Waikar, Michael G. Shlipak, Nicholas Wettersten, Steven G. Coca, Ramachandran S. Vasan, Orlando M. Gutierrez, Joachim H. Ix, Bradley A. Warady, Paul L. Kimmel, Joseph V. Bonventre, Chirag R. Parikh, Mark M. Mitsnefes, Michelle R. Denburg, Susan Furth, Ckd Biomarkers Consortium

Manuscripts, Articles, Book Chapters and Other Papers

KEY POINTS:

• Higher plasma and urine kidney injury molecule-1, urine monocyte chemoattractant protein-1, and lower urine alpha-1-microglobulin were associated with left ventricular hypertrophy, even after adjustment for confounders.
• Biomarkers of tubular injury, dysfunction, and inflammation may indicate the severity of kidney pathology and are associated with left ventricular hypertrophy.

BACKGROUND: Left ventricular hypertrophy (LVH) is common in children with CKD and is associated with an increased risk of cardiovascular disease and mortality. We have shown that several plasma and urine biomarkers are associated with increased risk of CKD progression. As CKD is associated with LVH, we sought to investigate the …

Risk And Risk Factors For Colorectal Subsequent Malignancies In Survivors Of Childhood Cancer: A Report From The Childhood Cancer Survivor Study, Constance A. Owens

Dissertations and Theses (Open Access)

Survivors of childhood cancer are at risk for colorectal subsequent malignant neoplasms (SMNs); notably, these cancers are amenable to screening. To identify at-risk survivors that may benefit from early screening, descriptive and risk factor analyses were performed to ascertain risk factors for colorectal SMN in childhood cancer survivors. In particular, we explored detailed radiation therapy (RT) data – colorectal and substructure dose-volume metrics – as risk factors for colorectal SMN risk; metrics that have yet to be thoroughly investigated. We developed a novel population-based anatomical colorectal model with substructures for RT dosimetry in late effects studies of childhood cancer survivors; …

Parent-Reported Clinical Utility Of Pediatric Genomic Sequencing, Hadley Stevens Smith, Bart S Ferket, Bruce D Gelb, Lucia Hindorff, Kathleen D Ferar, Mary E Norton, Nuriye Sahin-Hodoglugil, Anne Slavotinek, Kristen Hasmiller Lich, Jonathan S Berg, Heidi V Russell

Faculty, Staff and Student Publications

BACKGROUND AND OBJECTIVES: Genomic sequencing (GS) is increasingly used for diagnostic evaluation, yet follow-up care is not well understood. We assessed clinicians' recommendations after GS, parent-reported follow-up, and actions parents initiated in response to learning their child's GS results.

METHODS: We surveyed parents of children who received GS through the Clinical Sequencing Evidence Generating Research consortium ∼5 to 7 months after return of results. We compared the proportion of parents who reported discussing their child's result with a clinician, clinicians' recommendations, and parents' follow-up actions by GS result type using χ2 tests.

RESULTS: A total of 1188 respondents completed survey …

Short-Course Therapy For Urinary Tract Infections In Children: The Scout Randomized Clinical Trial, Theoklis Zaoutis, Nader Shaikh, Brian T Fisher, Susan E Coffin, Sonika Bhatnagar, Kevin J Downes, Jeffrey S Gerber, Timothy R Shope, Judith M Martin, Gysella B Muniz, Michael Green, Jennifer P Nagg, Sage R Myers, Rakesh D Mistry, Shawn O'Connor, Walter Faig, Stephen Black, Elizabeth Rowley, Kellie Liston, Alejandro Hoberman

Faculty, Staff and Student Publications

IMPORTANCE: There is a paucity of pediatric-specific comparative data to guide duration of therapy recommendations in children with urinary tract infection (UTI).

OBJECTIVE: To compare the efficacy of standard-course and short-course therapy for children with UTI.

DESIGN, SETTING, PARTICIPANTS: The Short Course Therapy for Urinary Tract Infections (SCOUT) randomized clinical noninferiority trial took place at outpatient clinics and emergency departments at 2 children's hospitals from May 2012, through, August 2019. Data were analyzed from January 2020, through, February 2023. Participants included children aged 2 months to 10 years with UTI exhibiting clinical improvement after 5 days of antimicrobials.

INTERVENTION: Another …

Improving Maternal, Neonatal And Child Health Outcomes In Low-Resource Settings: Translating Research Evidence To Practice - Report From The Third International Conference On Maternal, Newborn And Child Health, Robert L. Goldenberg, Shivaprasad S. Goudar, Nancy F. Krebs, Richard Derman, Sarah Saleem, Elizabeth M. Mcclure

Community Health Sciences

No abstract provided.

Don't Look Back And Spray! Risk Of Endoscope Adhesion With Hemospray Application In Retroflexion In A Pediatric Patient., Sarah T. Edwards, Diana G. Lerner, Moises Alatorre-Jimenez, Thomas M. Attard

Manuscripts, Articles, Book Chapters and Other Papers

Although the vast majority of recognized pediatric upper gastrointestinal bleeding (GIB) resolves spontaneously, gastrointestinal hemorrhage is the most common indication for urgent or emergent therapeutic endoscopy in pediatric practice. The application of hemostatic powders, including TC-325 (Hemospray, Cook Medical, Winston-Salem, NC, USA), has shown considerable impact on the control of acute bleeding, with the advantage of potentially covering an extensive area and requiring less technical expertise. We report a case of transient adherence of an esophagogastroduodenoscopy following Hemospray application in a 22-month-old with upper GIB. Our experience does not detract from the significant gains in the management of pediatric GIB …

Infants Admitted To Us Intensive Care Units For Rsv Infection During The 2022 Seasonal Peak., Natasha Halasa, Laura D. Zambrano, Justin Z. Amarin, Laura S. Stewart, Margaret M. Newhams, Emily R. Levy, Steven L. Shein, Christopher L. Carroll, Julie C. Fitzgerald, Marian G. Michaels, Katherine Bline, Melissa L. Cullimore, Laura Loftis, Vicki L. Montgomery, Asumthia S. Jeyapalan, Pia S. Pannaraj, Adam J. Schwarz, Natalie Z. Cvijanovich, Matt S. Zinter, Aline B. Maddux, Melania M. Bembea, Katherine Irby, Danielle M. Zerr, Joseph D. Kuebler, Christopher J. Babbitt, Mary Glas Gaspers, Ryan A. Nofziger, Michele Kong, Bria M. Coates, Jennifer E. Schuster, Shira J. Gertz, Elizabeth H. Mack, Benjamin R. White, Helen Harvey, Charlotte V. Hobbs, Heda Dapul, Andrew D. Butler, Tamara T. Bradford, Courtney M. Rowan, Kari Wellnitz, Mary Allen Staat, Cassyanne L. Aguiar, Saul R. Hymes, Adrienne G. Randolph, Angela P. Campbell, Rsv-Pic Investigators

Manuscripts, Articles, Book Chapters and Other Papers

IMPORTANCE: Respiratory syncytial virus (RSV) is the leading cause of lower respiratory tract infections (LRTIs) and infant hospitalization worldwide.

OBJECTIVE: To evaluate the characteristics and outcomes of RSV-related critical illness in US infants during peak 2022 RSV transmission.

DESIGN, SETTING, AND PARTICIPANTS: This cross-sectional study used a public health prospective surveillance registry in 39 pediatric hospitals across 27 US states. Participants were infants admitted for 24 or more hours between October 17 and December 16, 2022, to a unit providing intensive care due to laboratory-confirmed RSV infection.

EXPOSURE: Respiratory syncytial virus.

MAIN OUTCOMES AND MEASURES: Data were captured on demographics, …

Sars-Cov-2 Infections In Patients Enrolled On The Children's Oncology Group Standard-Risk B-Cell Acute Lymphoblastic Leukemia Trial, Aall1731., Caitlin W. Elgarten, John A. Kairalla, Joel Thompson, Tamara P. Miller, Cindy Wang, Susan Conway, Mignon L. Loh, Elizabeth A. Raetz, Sumit Gupta, Rachel E. Rau, Anne Angiolillo, Karen R. Rabin, Sarah Alexander

Manuscripts, Articles, Book Chapters and Other Papers

Hematologic malignancy is a risk factor for severe coronavirus disease 2019 (COVID-19) in adults; however, data specific to children with leukemia are limited. High-quality infectious adverse event data from the ongoing Children's Oncology Group (COG) standard-risk B acute lymphoblastic leukemia/lymphoma (ALL/LLy) trial, AALL1731, were analyzed to provide a disease-specific estimate of SARS-CoV-2 infection outcomes in pediatric ALL. Of 253 patients with reported infections, the majority (77.1%) were asymptomatic or mildly symptomatic (CTCAE grade 1/2) and there was a single COVID-19-related death. These data suggest SARS-CoV-2 infection does not confer substantial morbidity among young patients with B-lymphoblastic leukemia/lymphoma (B-ALL/LLy).

Postoperative Respiratory Complications In Sars-Cov-2 Positive Pediatric Patients Across 20 United States Hospitals: A Cohort Study, Audra J Reiter, Martha-Conley E Ingram, Mehul V Raval, Elisa Garcia, Madelyn Hill, Arturo Aranda, Nicole M Chandler, Raquel Gonzalez, Kristen Born, Shale Mack, Abdulraouf Lamoshi, Aaron M Lipskar, Xiao-Yue Han, Elizabeth Fialkowski, Brianna Spencer, Afif N Kulaylat, Amrene Barde, Ami N Shah, Maeva Adoumie, Erica Gross, Steven C Mehl, Monica E Lopez, Valerie Polcz, Moiz M Mustafa, Jeffrey W Gander, Travis M Sullivan, Jason P Sulkowski, Owais Ghani, Eunice Y Huang, David Rothstein, E Peter Muenks, Shawn D St Peter, Jason C Fisher, Dina Levy-Lambert, Allison Reichl, Romeo C Ignacio, Bethany J Slater, Kuojen Tsao, Loren Berman

Faculty, Staff and Student Publications

INTRODUCTION: Data examining rates of postoperative complications among SARS-CoV-2 positive children are limited. The purpose of this study was to evaluate the impact of symptomatic and asymptomatic SARS-CoV-2 positive status on postoperative respiratory outcomes for children.

METHODS: This retrospective cohort study included SARS-CoV-2 positive pediatric patients across 20 hospitals who underwent general anesthesia from March to October 2020. The primary outcome was frequency of postoperative respiratory complications, including: high-flow nasal cannula/non invasive ventilation, reintubation, pneumonia, Extracorporeal Membrane Oxygenation (ECMO), and 30-day respiratory-related readmissions or emergency department (ED) visits. Univariate analyses were used to evaluate associations between patient and procedure characteristics …

Exploring Celiac Disease: A Case Analysis Of Multi-Systemic Symptoms And Effective Dietary Intervention In A Young Female, Mahmoud Ahmed, Vyshnavidevi Sunkara, Muhammad S Khan, Maryam Affaf, Mohammad Ahsan Anwaar

Faculty, Staff and Student Publications

This study presents the case of a 23-year-old woman diagnosed with celiac disease (CD), a condition triggered by an immune response to gluten, leading to inflammation in the small intestine. The patient manifested typical gastrointestinal symptoms, including diarrhea, abdominal pain, and vomiting, complemented by extra-intestinal signs such as fatigue and skin rashes. Diagnosis was corroborated through the presence of tTG-IgA antibodies and distinct histological changes in the duodenum. A notable finding was the patient's iron deficiency anemia, directly linked to the duodenal damage caused by CD. Effective management, encompassing a strict gluten-free diet and iron supplementation, resulted in marked improvement …

Eosinophils Promote Effector Functions Of Lung Group 2 Innate Lymphoid Cells In Allergic Airway Inflammation In Mice, William E Lesuer, Melanie Kienzl, Sergei I Ochkur, Rudolf Schicho, Alfred D Doyle, Benjamin L Wright, Matthew A Rank, Alexander S Krupnick, Hirohito Kita, Elizabeth A Jacobsen

Faculty, Staff and Student Publications

BACKGROUND: Group 2 innate lymphoid cells (ILC2s) are critical mediators of type 2 respiratory inflammation, releasing IL-5 and IL-13 and promoting the pulmonary eosinophilia associated with allergen provocation. Although ILC2s have been shown to promote eosinophil activities, the role of eosinophils in group 2 innate lymphoid cell (ILC2) responses is less well defined.

OBJECTIVE: We sought to investigate the role of eosinophils in activation of ILC2s in models of allergic asthma and in vitro.

METHODS: Inducible eosinophil-deficient mice were exposed to allergic respiratory inflammation models of asthma, such as ovalbumin or house dust mite challenge, or to innate models of …

A Previously Healthy Infant With Lemierre Syndrome In The Emergency Department: Case Report, Adeola Adekunbi Kosoko, Omoyeni O Clement

Faculty, Staff and Student Publications

INTRODUCTION: Lemierre syndrome (LS) is a rare condition with a high mortality risk. It is well described in older children and young adults involving bacteremia, thrombophlebitis, and metastatic abscess commonly due to Fusobacterium infections. Young, pre-verbal children are also susceptible to LS; thus, careful attention must be given to their pattern of symptoms and history to identify this condition in the emergency department (ED).

CASE REPORT: A 12-month-old previously healthy boy with a recent diagnosis of acute otitis media and viral illness presented to the ED with a complaint of fever. Additional symptoms developed at the head and neck and …

Comprehensive Molecular And Clinical Characterization Of Nup98 Fusions In Pediatric Acute Myeloid Leukemia, Eline J M Bertrums, Jenny L. Smith, Lauren Harmon, Rhonda E. Ries, Yi-Cheng J. Wang, Todd A. Alonzo, Andrew J. Menssen, Karen M. Chisholm, Amanda R. Leonti, Katherine Tarlock, Fabiana Ostronoff, Era L. Pogosova-Agadjanyan, Gertjan J L Kaspers, Henrik Hasle, Michael Dworzak, Christiane Walter, Nora Muhlegger, Cristina Morerio, Laura Pardo, Betsy Hirsch, Susana Raimondi, Todd M. Cooper, Richard Aplenc, Alan S. Gamis, Edward A. Kolb, Jason E. Farrar, Derek Stirewalt, Xiaotu Ma, Tim I. Shaw, Scott N. Furlan, Lisa Eidenschink Brodersen, Michael R. Loken, Marry M. Van Den Heuvel-Eibrink, C Michel Zwaan, Timothy J. Triche, Bianca F. Goemans, Soheil Meshinchi

Manuscripts, Articles, Book Chapters and Other Papers

NUP98 fusions comprise a family of rare recurrent alterations in AML, associated with adverse outcomes. In order to define the underlying biology and clinical implications of this family of fusions, we performed comprehensive transcriptome, epigenome, and immunophenotypic profiling of 2,235 children and young adults with AML and identified 160 NUP98 rearrangements (7.2%), including 108 NUP98-NSD1 (4.8%), 32 NUP98-KDM5A (1.4%) and 20 NUP98-X cases (0.9%) with 13 different fusion partners. Fusion partners defined disease characteristics and biology; patients with NUP98-NSD1 or NUP98-KDM5A had distinct immunophenotypic, transcriptomic, and epigenomic profiles. Unlike the two most prevalent NUP98 fusions, NUP98-X variants are typically not …

Potassium Channel Subfamily T Member 1(Kcnt1) Pathological Variant Causing Epilepsy Of Infancy With Migrating Focal Seizures: A Case Report, Prem Chand, Meher Angez, Ayesha Nasir Hameed, Salman Kirmani

Department of Paediatrics and Child Health

Pathological mutation of potassium channel subfamily T member 1 (KCNT1) gene causes an autosomal dominant disorder characterised by secondarily generalised seizures/migratory focal seizure, cyanosis, and dysmorphic features. We report the case of a five-month old male with pathological KCNT1 variant who presented with focal clonic seizures, Mongol spots, and grade two systolic murmur at the left lower sternal border and loud P2. The seizures were refractory to most anti-epileptic drugs but showed some response to Valproic acid. This case demonstrated that EIMFS is a grave infantile epileptic encephalopathy which is refractory to anti epileptic drugs and can present with a …

Robotic Versus Laparoscopic Ventral Hernia Repair: Two-Year Results From A Prospective, Multicenter, Blinded Randomized Clinical Trial, Naila H Dhanani, Nicole B Lyons, Oscar A Olavarria, Karla Bernardi, Julie L Holihan, Shinil K Shah, Todd D Wilson, Michele M Loor, Lillian S Kao, Mike K Liang

Faculty, Staff and Student Publications

OBJECTIVE: Report the 2-year outcomes of a multicenter randomized controlled trial comparing robotic versus laparoscopic intraperitoneal onlay mesh ventral hernia repair.

BACKGROUND: Ventral hernia repair is one of the most common operations performed by general surgeons. To our knowledge, no studies have been published to date comparing long-term outcomes of laparoscopic versus robotic ventral hernia repair.

METHODS: The trial was registered at clinicaltrials.gov (NCT03490266). Clinical outcomes included surgical site infection, surgical site occurrence, hernia occurrence, readmission, reoperation, and mortality.

RESULTS: A total of 175 consecutive patients were approached that were deemed eligible for elective minimally invasive ventral hernia repair. In …

Contemporary Changes In Etiology For Hepatocellular Carcinoma In Liver Transplantation, Cameron Goff, Anjiya Shaikh, Karthik Goli, Hashem B El-Serag, Fasiha Kanwal, George Cholankeril

Faculty, Staff and Students Publications

No abstract provided.