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Articles 241 - 270 of 474
Full-Text Articles in Pediatrics
Cvst As A Rare Complication Of Acute Pediatric Covid-19, Erin Bolen
Cvst As A Rare Complication Of Acute Pediatric Covid-19, Erin Bolen
Research Days
Background: A previously healthy 13-year-old male was admitted to the hospital for a bacterial superinfection in the setting of recent COVID-19, including orbital cellulitis and pansinusitis with subgaleal, epidural, and subdural empyema. Further workup identified an occult, non-occlusive cerebral venous sinus thrombosis (CVST) along the length of the superior sagittal sinus.
Objectives/Goal: To evaluate the reported cases of CVST as a potential complication of COVID-19 in the pediatric population and identify meaningful trends in demographics, presentation, and diagnostic course.
Methods/Design: A literature search was run with various combinations of the following terms, always including “COVID”: “pediatric,” “adolescent,” “CVST,” “cerebral venous …
Evaluation Of A Hirschsprung Disease Systemwide Enterocolitis De-Escalation Strategy, Albert Aickareth
Evaluation Of A Hirschsprung Disease Systemwide Enterocolitis De-Escalation Strategy, Albert Aickareth
Research Days
Problem Statement/Question: Components of systems that identify, treat and prevent enterocolitis are not well described. In addition, for patients with HSCR both pre and post pull-through, questions regarding a child’s clinical status occur through several different medical access points and may occur outside of colorectal center clinic hours.
Background/Project Intent (Aim Statement): Hirschsprung associated enterocolitis (HAEC) is a severe and potentially life-threatening complication of Hirschsprung Disease (HSCR) that can present with a variety of symptoms from mild abdominal pain to fulminant colitis. We evaluated our system-wide enterocolitis de-escalation strategy for both hospital staff and patient caregivers. Our primary analysis was …
Impact Of A Mental Health Screening Process In A Pediatric Ed, Bryan Stocker Do, Shobhit Jain Md, Kathryn Worland Msw, Celeste Tarantino Md, Lina Patel Md, Shayla Sullivant Md
Impact Of A Mental Health Screening Process In A Pediatric Ed, Bryan Stocker Do, Shobhit Jain Md, Kathryn Worland Msw, Celeste Tarantino Md, Lina Patel Md, Shayla Sullivant Md
Research Days
Background: Up to 20% of children in the United States experience a mental health disorder and suicide is the second leading cause of death among adolescents. Children presenting with mental health concerns to the Emergency Department (ED) can be challenging due to lack of access to trained professionals and long lengths of stay. Specialized teams have shown to be beneficial, but little is known about their impact in the ED.
Objectives/Goal: This study explored the impact of specialized social workers partnering with emergency medicine providers to provide care during an acute mental health crisis.
Methods/Design: We performed this work at …
X-Linked Nephrogenic Syndrome Of Inappropriate Antidiuresis Secondary To Vasopressin Receptor 2 Mutation, Erica Zarse
X-Linked Nephrogenic Syndrome Of Inappropriate Antidiuresis Secondary To Vasopressin Receptor 2 Mutation, Erica Zarse
Research Days
Background: X-linked nephrogenic syndrome of inappropriate antidiuresis (NSIAD) is a rare cause of hyponatremia with a similar biochemical evaluation to the syndrome of inappropriate antidiuretic hormone secretion but with suppressed vasopressin (AVP) levels.
Objectives: We present a case of hyponatremia due to NSIAD.
Results: A 25-month-old male with developmental delay became unresponsive 30 minutes after falling off a couch onto a hardwood floor. He presented with tonic-clonic movements and eye deviation requiring antiepileptics. Serum laboratories noted hyponatremia (123 mmol/L), hypoosmolality (262 mOsm/kg) and hypochloremia (90 mmol/L) prompting endocrine consult. Head imaging normal. Urine dilute with specific gravity 1.004, osmolality 160 …
Covid-19: Perspectives From Youth In Detention, April Mcneill-Johnson
Covid-19: Perspectives From Youth In Detention, April Mcneill-Johnson
Research Days
Background: The COVID-19 pandemic amplified health disparities among youth in detention. Understanding perspectives of these youth on the pandemic and COVID-19 vaccination may identify strategies to mitigate pandemic-related health disparities in this group.
Objectives/Goal: To explore perspectives on the COVID-19 pandemic, effect on detention experience and the COVID vaccine among youth in detention.
Methods/Design: This is a secondary analysis of a study examining healthcare needs and experiences of youth in detention. We recruited a convenience sample of youth (14-17 years) detained in urban midwestern juvenile detention centers from January-November 2021. We conducted semistructured individual interviews & used a thematic analysis …
Gastrointestinal Fibromatosis: A Case Of Successful Oral Tyrosine Kinase Inhibitor Delivery To An Infant With Proximal Duodenal Obstruction, Darius Blanding
Gastrointestinal Fibromatosis: A Case Of Successful Oral Tyrosine Kinase Inhibitor Delivery To An Infant With Proximal Duodenal Obstruction, Darius Blanding
Research Days
Background: Infantile myofibromatosis (IM) is a rare disorder characterized by the fibrous proliferation of the skin, bone, muscle, and viscera that usually presents at birth, or soon after. Although IM is a benign condition, significantly higher morbidity and mortality have been reported when the viscera is involved. This case report is of a 6-week-old female who presented with poor feeding along with subcutaneous nodules that were diagnosed as IM. Upper and lower endoscopy were performed for worsening feeding intolerance showing marked nodularity throughout the gastrointestinal (GI) tract, including partial obstruction of the proximal duodenum by biopsy-proven myofibromas, confirming visceral IM …
Subclinical Status Epilepticus In The Setting Of An Acute Covid-19 Infection, Thomas Rieth
Subclinical Status Epilepticus In The Setting Of An Acute Covid-19 Infection, Thomas Rieth
Research Days
Background: While COVID-19 commonly presents as an upper respiratory infection, acute COVID infections has the potential to have multisystem involvement. Neurological symptoms, which have mainly been reported in adults, are rare in children and are not well recognized. Better understanding of the neurological manifestations of COVID-19 in children can lead to earlier detection of COVID-19 and help with medical decision making and treatment.
Objectives/Goal: To describe an unusual presentation of COVID-19 in a previously healthy female and explore the neurological presentations of COVID-19.
Results: A 10 year old previously healthy female presented with a 1 day history of altered mental …
Soft Palate Teratoma: 5 Month Old Presenting With Failure To Thrive And Severe Obstructive Sleep Apnea, Anna Lawrence
Soft Palate Teratoma: 5 Month Old Presenting With Failure To Thrive And Severe Obstructive Sleep Apnea, Anna Lawrence
Research Days
Introduction: Oropharyngeal teratomas are an extremely rare congenital tumor. They are often diagnosed prenatally and can cause significant airway obstruction and feeding difficulties at birth. We present a 5-month old female that was diagnosed with a palatal teratoma that presented with failure to thrive, difficulty feeding and eventually with severe obstructive sleep apnea.
Case Description: We present a 5 month old term, otherwise healthy female who initially was breastfeeding well. After an episode of RSV at one month old she become stridulous and had difficulties with feeding. She was seen by an otolaryngologist at 3 months old who performed both …
A Case Of Fibrous Hamartoma In Term Neonate, Elizabeth Perry
A Case Of Fibrous Hamartoma In Term Neonate, Elizabeth Perry
Research Days
Case report abstract: Fibrous hamartoma of infancy (FHI) is a rare, benign lesion characterized as a tumor of myofibroblastic origin that has characteristic features of triphasic histology. FHI was first described in 1956 by Reye and formally named by Enzinger in 1965 (1, 2). The lesion is defined as a hamartoma due to the histologic presentation of disorganized mesenchymal, fibrous, and adipose tissue with absence of mitotic figures; this combination of derived tissue without evidence of anaplasia is diagnostic for FHI. These lesions typically arise as a single, solitary mass, are most commonly located on the extremities, trunk, sacrum, or …
Early Onset Obesity In A 4-Year-Old Female Found To Have Variants In Both The Single-Minded Homolog 1 And Sh2b Adaptor Protein 1 Genes, Erica Zarse
Research Days
No abstract provided.
Use Of Artificial Intelligence To Identify Predictors Of Functional Outcomes In Patients With Facioscapulohumeral Muscular Dystrophy, Natalie K. Katz
Use Of Artificial Intelligence To Identify Predictors Of Functional Outcomes In Patients With Facioscapulohumeral Muscular Dystrophy, Natalie K. Katz
Research Days
Background: Facioscapulohumeral muscular dystrophy (FSHD) is one of the most common forms of muscular dystrophy characterized by slowly progressive muscle weakness. Symptoms initially involve the facial and shoulder girdle muscles, with later involvement of the distal lower extremities, pelvic girdle and proximal lower extremities. FSHD type 1 (FHSD1) is the most common form (~95% of individuals) and is caused by deletion of microsatellite repeats in the D4Z4 region on chromosome 4 (4q35). Normal individuals have >10 repeats whereas individuals with FSHD1 have 1-10 repeats. There is significant variability in regards to disease severity, rates of progression and functional outcomes, but …
Financial Outcomes Of High Flow Nasal Cannula Use For Bronchiolitis On The General Pediatric Floor Across Children's Hospitals, Jonathan Hartley
Financial Outcomes Of High Flow Nasal Cannula Use For Bronchiolitis On The General Pediatric Floor Across Children's Hospitals, Jonathan Hartley
Research Days
Background: Bronchiolitis is a leading cause of hospitalization for infants and results in over 1.7 billion dollars in yearly hospital charges (Hasegawa). The use of high flow nasal cannula (HFNC) on a general pediatrics floor may reduce hospital costs and length of stay (LOS, Kalburgi). However, the financial impact of HFNC use is not welldescribed.
Objective: The primary objective are the financial outcomes of HFNC utilization on the general pediatric floor. The secondary objective included financial outcomes stratified by All Patients Refined Diagnosis Related Groups (APRDRG) severity of illness (SOI) and payor type. We hypothesize that costs outweigh reimbursement for …
Prevalence Of Adolescent Sexual Health Outcomes At Children’S Hospitals During Covid-19, Margarita Abella
Prevalence Of Adolescent Sexual Health Outcomes At Children’S Hospitals During Covid-19, Margarita Abella
Research Days
Background: The Coronavirus Disease 2019 (COVID-19) pandemic mitigation strategies, including social distancing, decreased structured environments, and decreased sexual and reproductive health (SRH) care access, could negatively impact adolescent SRH behaviors and related outcomes. To date, little is known regarding changes in adolescent SRH outcomes during COVID-19.
Objectives/Goal: Our goals were to assess changes in adolescent SRH outcomes, including sexually transmitted infections (STIs), pregnancy, and sexual assault in the hospital (emergency department [ED] and inpatient [IP]) during COVID-19 compared to pre-COVID-19.
Methods/Design: We conducted a retrospective cohort study of adolescent (11-18 years old) IP or ED hospital visits using the Pediatric …
Factors Associated With Suicide Screenings For An Autism Spectrum Disorder Population In A Pediatric Medical Setting, Cheng Qian, Dawn Greathouse
Factors Associated With Suicide Screenings For An Autism Spectrum Disorder Population In A Pediatric Medical Setting, Cheng Qian, Dawn Greathouse
Research Days
Background: Individuals with autism spectrum disorder (ASD) are at least 3 times more likely to attempt suicide than those without ASD (Kolves et al., 2021; Richa et al., 2014). Core features of ASD (e.g., deficits in communicating emotions, difficulty with change) are associated with known suicide attempt antecedent events, and rates of co-occurring mental health concerns (e.g., depression) that increase suicide risk are higher than in the general population (Richa et al., 2014). However, mental health clinicians perceive patients with ASD to be at lower risk for suicide, and report lower self-efficacy in screening in this population (Jager-Hyman et al., …
Bmi And Associated Variables In A Pediatric Gender Clinic Sample, Mirae J. Fornander
Bmi And Associated Variables In A Pediatric Gender Clinic Sample, Mirae J. Fornander
Research Days
Background: Studies of transgender/gender diverse (TGD) youth indicate a high prevalence of overweight/obesity and concern for unhealthy weight control behavior.
Objectives/Goal: Describe BMI and the association of medication use, well-being, and recreational activities in treatmentnaïve pediatric TGD patients.
Methods/Design: Chart review of 302 patients (age 3-19, 73.5% sex assigned at birth (SAB) female; 85.8% white) from 2017-20. BMI was calculated by age and SAB using CDC growth charts. Parents reported medication use. Parent and self-reported Pediatric Quality of Life (PEDS-QL) Well-Being and activities were surveyed electronically.
Results: By BMI category, 3.3% were underweight (BMI85% and 29.5% fell >95%. Overweight and …
Transgender Identity Among Adolescents With Pcos, Cintya Schweisberger
Transgender Identity Among Adolescents With Pcos, Cintya Schweisberger
Research Days
Background: The estimated prevalence of transgender identity among US adolescents is 0.5% to 1.3%. Some studies have suggested an increased prevalence of PCOS in transmasculine adults before testosterone therapy. There is a paucity of data describing the relationship between gender dysphoria and PCOS in adolescents.
Objectives/Goal: The objective of our study was to describe the prevalence of transgender identity among adolescents with PCOS.
Methods/Design: A secondary data analysis was conducted in 169 adolescents (16.1 ±1.64 yrs) from our Multidisciplinary Adolescent medicine and Pediatric endocrine PCOS (MAPP) clinic who met NIH criteria for PCOS and had gender identity recorded. Variables analyzed …
Characterization Of Comorbidities In Patients With A Dual Diagnosis Of Down Syndrome And Autism Spectrum Disorder Using Cerner Health Facts, Michael Slogic
Characterization Of Comorbidities In Patients With A Dual Diagnosis Of Down Syndrome And Autism Spectrum Disorder Using Cerner Health Facts, Michael Slogic
Research Days
Background: Up to 19% of patients with Down syndrome (DS) meet diagnostic criteria for autism spectrum disorder (ASD) (Channell, et al, 2019). While the medical and psychological comorbidities for patients with DS or ASD are well characterized, comorbidities and outcomes for patients with a dual diagnosis (DS-ASD) are poorly understood. A large cohort of patients with DS-ASD, as well as those with ASD and DS alone, are needed to better understand this. Methods for grouping and analyzing complex diagnostic phenotypes are also needed.
Objectives/Goal: Our objective is to utilize Cerner Health Facts, a multi-institutional healthcare database, to identify large populations …
Effectiveness And Safety Of Repeat Dexamethasone For Bronchopulmonary Dysplasia, Christian Oliveros
Effectiveness And Safety Of Repeat Dexamethasone For Bronchopulmonary Dysplasia, Christian Oliveros
Research Days
Background: Although a short course of steroids maybe beneficial in infants at high risk for bronchopulmonary dysplasia, response to treatment is variable. In infants with persistent lung disease despite initial treatment, repeat courses of steroids have been described but not well-studied. This 10-year observational study from a single tertiary referral center evaluates the effectiveness and safety of repeat steroid treatment for bronchopulmonary dysplasia.
Objectives/Goal: To describe effectiveness of repeat dexamethasone treatment for bronchopulmonary dysplasia (BPD) and to evaluate potential detrimental effects on growth and neurodevelopment.
Methods/Design: This was a 10-year single-center observational study of infants <30 >weeks’ gestational age at birth …30>
Prevalence Of Mycoplasma Genitalium And Macrolide Resistance In Adolescent Females Receiving Care At A Pediatric Hospital, Kayla Barnes
Prevalence Of Mycoplasma Genitalium And Macrolide Resistance In Adolescent Females Receiving Care At A Pediatric Hospital, Kayla Barnes
Research Days
Background: Mycoplasma genitalium is an established sexually transmitted cause of nongonococcal urethritis in males and macrolide resistance is increasing. The pathogenic role is less well-defined in adolescent females and guidelines recommend M. genitalium testing only be considered in cases of persistent or recurrent cervicitis and pelvic inflammatory disease (PID). We lack understanding of the prevalence and macrolide resistance of M. genitalium among adolescent females.
Objectives/Goal: To determine the prevalence of M. genitalium and rate of detected macrolide resistance among adolescent females seeking care at a pediatric children’s hospital.
Methods/Design: We collected 200 salvaged urogenital samples (56 urine and 144 vaginal) …
Infliximab As Rescue Therapy In Pediatric Severe Colitis, Kayla B. Briggs
Infliximab As Rescue Therapy In Pediatric Severe Colitis, Kayla B. Briggs
Research Days
Background: Infliximab has been shown to be effective in achieving clinical remission in patients with ulcerative colitis (UC) refractory to conventional therapy. However, there is conflicting data in the literature regarding its effectiveness as rescue therapy in acute severe colitis. Furthermore, most studies were conducted in adults, and pediatric onset of inflammatory bowel disease (IBD) is associated with more severe disease that may be less amenable to rescue therapy.
Objectives/Goal: We reviewed our experience with pediatric severe colitis and report outcomes following attempted rescue therapy with infliximab.
Methods/Design: A retrospective review was conducted of patients with UC or indeterminate colitis …
A Study Examining The Safety And Efficacy Of Ferric Carboxymaltose In A Large Pediatric Cohort, Chandni Dargan Md, David Simon Do
A Study Examining The Safety And Efficacy Of Ferric Carboxymaltose In A Large Pediatric Cohort, Chandni Dargan Md, David Simon Do
Research Days
Background: Iron deficiency anemia (IDA) is common in the pediatric population with varying high-risk factors. Intravenous (IV) iron supplementation has become more desirable in patients with moderate to severe anemia and in patients who are either unresponsive to or have adverse side-effects secondary to oral iron. Iron sucrose and Iron dextran have been traditionally used in pediatrics while ferric carboxymaltose (FCM) has only been FDA approved in adults. One of the major advantages of FCM is the ease of dosing and efficacy. Though FCM was approved for adults in 2013 and there have been no safety concerns, it is not …
Neonatal Arch Obstruction: Not Always A Coarctation, Karoline Krzywda
Neonatal Arch Obstruction: Not Always A Coarctation, Karoline Krzywda
Research Days
Background: Spontaneous neonatal arch thrombosis is a rare, highly lethal cause of aortic arch obstruction.
Case: A 1-day-old male infant presented failing CCHD screen, on prostaglandin infusion for echocardiographic concerns of aortic coarctation. Repeat echocardiogram revealed severe arch obstruction due to a large, 7.5x5mm echogenic mass, at the aortic isthmus (Fig1A) with right to left systolic PDA flow. CT angiography confirmed presence of a large aortic arch thrombus (Fig1B). Bivalirudin infusion was initiated without change in thrombus size after 2 days. Tissue plasminogen activator (tPA) was subsequently administered with significant reduction in thrombus size to 3x4mm (Fig1C) on day 1 …
Unique Evaluation And Management Considerations For Adolescents With Late Gynecologic And Colorectal Issues In The Setting Of Anorectal Malformations, Wendy Jo Svetanoff
Unique Evaluation And Management Considerations For Adolescents With Late Gynecologic And Colorectal Issues In The Setting Of Anorectal Malformations, Wendy Jo Svetanoff
Research Days
Background: Females born with anorectal malformations (ARMs) and bladder exstrophy have a greater incidence of Mullerian and genital anomalies requiring early gynecologic assessment and frequent surgical intervention. However, there is little guidance for management considerations of pubertally identified Mullerian anomalies in these patients
Objectives/Goal: We sought to assess the unique colorectal, gynecologic, and psychological issues present during the adolescent years.
Methods/Design: A retrospective review was performed of 10-25 year old female patients born with an ARM, cloaca, or exstrophy that presented to our multidisciplinary clinic between 2009 and 2019. Data abstracted included the presenting problem, history, imaging studies, psychological evaluation, …
Attitudes Of Pediatric Residents In The Care Of Transgender Youth, Michelle Knoll
Attitudes Of Pediatric Residents In The Care Of Transgender Youth, Michelle Knoll
Research Days
Background: Transgender individuals have health disparities compared to the general population and face several barriers to medical care. Prior studies indicate physician knowledge on transgender topics is poor and that transphobia is associated with poor knowledge even after educational interventions. Objectives/Goal: We sought to examine pediatric residents’ attitudes about transgender individuals and assess concerns related to the treatment of transgender youth. Methods: A survey was sent to 89 US Pediatric and combined (e.g. Med-Peds) residency programs and advertised on social media. Approximately 32 programs forwarded the survey to an estimated 1325 residents; 138 residents completed it. The survey consisted of …
A Case Series Of Hyperglycemic Hyperosmolar State During The Global Covid-19 Pandemic, Benjamin Hoag
A Case Series Of Hyperglycemic Hyperosmolar State During The Global Covid-19 Pandemic, Benjamin Hoag
Research Days
Background: Hyperglycemic hyperosmolar state (HHS) is rare in pediatrics, particularly in patients with antibody positive diabetes mellitus (DM). Recent literature has implicated COVID-19 in the reported increase in new onset DM cases, as well as mixed diabetic ketoacidosis (DKA) and HHS cases; however, a rise in HHS cases alone has not been well reported [1,2]. We noted an anecdotal increase in the frequency of HHS cases in our pediatric tertiary care center following the onset of the global COVID-19 pandemic.
Objectives/Goal: To investigate further, a retrospective chart review evaluating all patients with DM admitted in the first 6 months of …
Portable Low Field Strength Mri: Preliminary Experience In Neonates And Children, Johnston Fite
Portable Low Field Strength Mri: Preliminary Experience In Neonates And Children, Johnston Fite
Research Days
Background: High field strength MRI (HF-MRI) is a pediatric imaging staple. However, HF-MRI access is limited by strong (1.5 – 3.0 T) magnetic fields with associated safety concerns, space requirements, and cost. To address these limitations, Hyperfine (Guilford, CT) developed a low magnetic field (0.064 T) portable MRI device, named Swoop. Preliminary data in adults shows benefits despite decreased image quality. In this study, initial evaluation of Swoop’s image quality in pediatric patients was assessed.
Objectives/Goal: The objective in this study was the initial evaluation of Swoop’s image quality in pediatric patients to serve as a baseline.
Methods/Design: The study …
Variability In Blood Gas Levels During Non-Invasive Ventilatory Support Following Planned Extubation And Association To 36-Week Bronchopulmonary Dysplasia In Preterm Neonates, Michelle Klueppelberg
Variability In Blood Gas Levels During Non-Invasive Ventilatory Support Following Planned Extubation And Association To 36-Week Bronchopulmonary Dysplasia In Preterm Neonates, Michelle Klueppelberg
Research Days
Background: Despite shifts to non-invasive support, as of 2012, 87% of preterm infants admitted to the neonatal intensive care unit (NICU) continued to receive some form of invasive mechanical ventilation1 . As a result, research around how prolonged respiratory support may impact the development of chronic lung disease, specifically bronchopulmonary dysplasia (BPD) has flourished. To date, literature has established associations between the time on invasive mechanical ventilation and incidence BPD2,3. Resulting in the development of standardized extubation strategies and bringing with them objective measures of extubation readiness4,5. Yet, due to their volatile conditions, some neonates will inevitably need to be …
Impact Of High Flow Nasal Cannula On Resource Utilization In Bronchiolitis, Scott Biggerstaff
Impact Of High Flow Nasal Cannula On Resource Utilization In Bronchiolitis, Scott Biggerstaff
Research Days
Background: Bronchiolitis is one of the most common diseases requiring hospitalization in children 1-24 months of age, but presently treatment is primarily supportive. High flow nasal cannula is a newer method of oxygen delivery pediatric hospitals have been rapidly adopting to treat respiratory insufficiency caused by viral bronchiolitis.
Objectives/Goal: We sought to compare resource utilization, including cost, length of stay (LOS), and readmission among children who were treated with HFNC versus those who were not.
Methods/Design: In this cross-sectional, multicenter study, we obtained clinical and resource utilization data from the Pediatric Health Information System (PHIS) database for otherwise healthy children …
Antibiotic Durations For Skin And Soft Tissue Infections In Pediatric Urgent Care Clinics, Megan Hamner
Antibiotic Durations For Skin And Soft Tissue Infections In Pediatric Urgent Care Clinics, Megan Hamner
Research Days
Background: Skin and soft tissue infections (SSTIs) are the second most common diagnosis leading to pediatric antibiotic prescriptions in the outpatient setting after respiratory diagnoses. However, most antibiotic stewardship programs have mainly focused on the latter. Children seen in the ambulatory setting for SSTIs often receive >7 days of antibiotics, although current society guidelines recommend 5-7 days for most diagnoses.
Objectives/Goal: To determine the baseline percentage of patients receiving antibiotic prescriptions for >7 days for SSTIs in Children’s Mercy urgent care clinics (UCC)s and to evaluate factors that influence providers towards longer durations.
Methods/Design: We built a report that extracted …
Germline Variants Associated With Cancer Predisposition And Bone Marrow Failure Are Common In Kmt2a-R Infant Acute Lymphoblastic Leukemia Patients, Sarah E. Mc Dermott
Germline Variants Associated With Cancer Predisposition And Bone Marrow Failure Are Common In Kmt2a-R Infant Acute Lymphoblastic Leukemia Patients, Sarah E. Mc Dermott
Research Days
Background: Infant acute lymphoblastic leukemia (ALL), is a particularly aggressive subtype of leukemia with an early onset and unfavorable clinical outcome. Most (~70%) cases of infant ALL involve chromosomal rearrangement of KMT2A (KMT2A- r) on chromosome 11q23, the strongest independent predictor of a poor prognosis. To date, genomics studies have consistently demonstrated KMT2A-r infant ALL to have a strikingly silent landscape of DNA mutations. Germline mutations in cancer predisposition genes are found in 8.6% of pediatric malignancies and 4.4% of pediatric leukemias, compared to 1.1% in persons in the 1000 Genomes Project.
Objectives/Goal: We hypothesized that germline variants may contribute …