Digital Commons Network^™

Severe Thiopurine-Induced Myelosuppression In A Pediatric All Patient With The Nudt15 *1/*6 Genotype, Jillian Fry, Keith August, Terrie Flatt Do, Laura B. Ramsey

Posters

Introduction: Genetic variants in TPMT and NUDT15 that affect the metabolism of mercaptopurine (6MP) are routinely tested for to guide 6MP dosing. Nudix hydroxylase 15 (NUDT15) deficiency can cause myelosuppression when affected patients are treated with 6MP. The NUDT15 *6 allele is classified as having uncertain function by the Clinical Pharmacogenetics Implementation Consortium Guidelines given insufficient data to determine its phenotype. Here, we present the case of a pediatric patient with the NUDT15 *1/*6 genotype experiencing significant mercaptopurine-induced myelosuppression. Case Description: We present a 4-year-old female with standard risk-average precursor B-cell acute lymphoblastic leukemia treated per AALL1731. Exome sequencing reported …

Knowledge, Attitude, And Practice Towards Cervical Cancer Screening Among Women Aged 20 Years And Above In Mysuru, India, Sneha Manosh Kumar, Rashmi S, Amogha Shree

Digital Journal of Clinical Medicine

Background: Cervical cancer remains the fourth most common cancer among women globally and a leading cause of cancer-related mortality in India. Despite being largely preventable through screening, uptake remains suboptimal due to socio-cultural and systemic barriers.

Methods: A community-based cross-sectional study was conducted among 300 women aged ≥20 years residing in urban and rural areas of Mysuru. Data were collected using a pre-tested, semi-structured questionnaire and analyzed with SPSS version 30.

Results: Awareness of cervical cancer was reported by 90% of participants and of screening methods by 80%. However, only 21% had ever undergone screening and 17% within the preceding …

Reliability And Spatial Consistency Of Mr Diffusion Tensor Imaging Measures Along The Cerebral Perivascular Space, Enchao Qiu, Joga Chaganti, Phillip Phan, M. Alizadeh, Devon Middleton, Kiran Talekar, Prabath Mondel, Scott H. Faro, Feroze Mohamed, Hsiangkuo Yuan

Department of Radiology Faculty Papers

BACKGROUND AND PURPOSE: Diffusion tensor imaging analysis along the perivascular space (DTI-ALPS) has emerged as a promising noninvasive method for evaluating water motion that may reflect glymphatic system function. However, the reliability of DTI-ALPS measurements across different region-of-interest (ROI) selection methods remains underinvestigated. This study aimed to assess the interrater reliability among three neuroradiologists in native space and compare DTI-ALPS indices derived from ROIs placed in subjects' native space versus standardized Montreal Neurological Institute (MNI) space.

METHODS: DTI-ALPS indices from 16 healthy subjects were calculated from both left and right hemispheres using two ROI placement approaches: (1) native space ROIs …

Diagnostic Journey In The Recognition Of Oncogenic Osteomalacia, Steven B. Nagelberg, Mihaela Biscoveanu, Barbara Bix, Carrie Andrews, Srinivas Prasad

Jefferson Health - Northeast Papers (formerly Aria Health Papers)

A 73-year-old woman with a remote history of successfully treated primary hyperparathyroidism was referred to our office because of multiple skeletal fractures and proximal muscle weakness. Prior laboratory evaluation demonstrated hypocalcemia, vitamin D deficiency, elevated PTH, and elevated alkaline phosphatase. Updated evaluation in our clinic additionally showed hypophosphatemia prompting measurement of serum fibroblast growth factor 23 (FGF23). FGF23 proved to be markedly elevated prompting consideration of tumor-induced osteomalacia. Positron emission tomography with Cu-64 oxodotreotide revealed an enhancing focus in the left thoracic spine that was confirmed on magnetic resonance imaging to be a 1.5-cm extradural mass. The patient underwent surgical …

International Accreditation For Acute Stroke Care: Lessons Learnt From A Kenyan Stroke Centre, Dilraj Sokhi

Internal Medicine, East Africa

Background: The prevalence of stroke is increasing in Africa, yet resources remain limited in managing the disease. Whilst there are international guidelines on how to set up and manage stroke services, even in resource-limited settings, the uptake remains low. We describe here the opportunities and challenges we faced whilst setting up a stroke care pathway of international standards in a regional referral hospital in East Africa.

Methods: We describe how we adapted international stroke care guidelines for acute primary stroke (including both ischemic and hemorrhagic stroke), and used these to inform our stroke care pathway. We highlight opportunities of leveraging …

Fetal Myocardial Performance Index In The Late Third Trimester For The Prediction Of Intrapartum Cardiotocographic Abnormalities, Sikolia Wanyonyi, Ingrid Gichere

Obstetrics and Gynaecology, East Africa

Objective

We sought to determine whether fetal myocardial performance index (MPI) performed in the late third trimester could predict abnormal intrapartum cardiotocographic (CTG) patterns.

Methods

A prospective observational study including women presenting for fetal growth ultrasound from 32 weeks. Three consecutive measurements of the left ventricular MPI were obtained and averaged. The patients’ intrapartum CTG events were later observed.

Results

A total of 299 women were analyzed. The fetal MPI across the population were 0.41, 0.50 and 0.63, representing 10th, 50th and 90th centiles, respectively. A one-way analysis of variance (ANOVA) did not show a significant difference in MPI values …

Bridging Gaps In Breast Cancer Care: A Breast Cancer Care Quality Index To Improve Outcomes Worldwide, Eduardo Cazap, Benjamin Anderson, Giuseppe Curigliano, Sandeep Sehdev, Fatima Cardoso, Ana Gonzalez, Emad Shash, Cheng-Har Yip, André Mattar, Miriam Mutebi

General Surgery, East Africa

Background: Breast cancer (BC) care faces challenges in early detection, timely diagnosis and comprehensive management. Disparities persist, with underserved populations facing the greatest barriers. Addressing these requires policies that support consistent, evidence-based practices and enhance healthcare capacity and technology advancements. This document presents the development of the Breast Cancer Care Quality Index (BCCQI), supported by evidence to promote equitable care and improve BC outcomes globally, and discusses its adoption as a strategic tool within National Cancer Control Plans.

Methods: A two-part methodology identified challenges in BC care and defined dimensions, targets and indicators for the BCCQI, aligned with …

Fractures In Parkinson's Disease: Pathophysiology, Prevention, And Orthopedic Outcomes., Ali Osman, Tala Maya, Rayyan Bhutta, Natasha Doshi, Maryam Khan, Sara Shah, Paslene Periceles, Janae Rasmussen

Surgery Articles

Fractures are an important comorbidity in Parkinson's disease (PD), which can result in disability, mortality, and high healthcare costs. Impaired mobility, postural instability, bradykinesia, muscle rigidity, and decreased bone mineral density (BMD) contribute to the increased risk of falls, which often result in hip and upper extremity fractures. Hip fractures in patients with PD are associated with an increased hospital length of stay and a decline in functional independence. Multimodal fall prevention in PD is well established, but prevention of fractures is often underutilized, despite evidence-based interventions. Information on fall-related fracture outcomes after exercise interventions is an area warranting further …

Advancements In Diversity In Dermatology: A 5-Year Retrospective Analysis Of Racial And Ethnic Trends In U.S. Dermatology Residency Programs (2020-2024), Devin Barzallo, Afua Ofori-Darko, Larissa De Souza, Precious Nwanwa, Timmie Sharma

Student Scholarship

Diversity in residency programs is important for achieving health equity. Although targeted initiatives have led to some progress, dermatology residency trainees do not proportionally reflect the growing diversity of the U.S. population. We analyzed data from the Association of American Medical Colleges on residents from 2020 to 2024 to evaluate evolving diversity trends.

Malignancy-Associated Renal Infarction: A Case Of Prostate Cancer Presenting With Flank Pain And Hematuria., Connor J Stinson, Alec Pupo, Patrick Laird

Internal Medicine Resident Research

Renal infarction is an uncommon but critical diagnosis that is frequently overlooked due to its nonspecific presentation and overlap with more common causes of abdominal or flank pain. Patients with malignancy, including metastatic prostate cancer, are at increased risk of thromboembolic events due to the intrinsic hypercoagulable state promoted by cancer, yet arterial events, such as renal infarction, remain underrecognized. We present the case of a 74-year-old male with metastatic castrate-sensitive prostate cancer who developed acute abdominal pain, nausea, and vomiting. Evaluation revealed elevated blood pressure, microscopic hematuria, and increased lactate dehydrogenase (LDH). CT scan of the abdomen and pelvis …

Triage Tools To Inform The Prioritisation Of Physical Health Services Following A Diagnosis Of Cancer: A Scoping Review, Georgia L. White, Lauren C. Capozzi, Corey Linton, Adrian Wright, Tamara Jones, Hattie H. Wright, Kate A. Bolam, Elizabeth A. Johnston, Briana K. Clifford, Keegan Bean, Stephanie Brown, Sarah Kolesaric, Mary A. Kennedy, Bryan A. Chan, Grace L. Rose

Research outputs 2022 to 2026

Purpose: Many people face multiple cancer- and treatment-related sequalae. Triage and referral to physical health services can manage such consequences, but a comprehensive understanding of available triage tools is lacking. This review (i) identifies tools used to triage to physical health services, (ii) maps tool characteristics and application outcomes and (iii) summarises existing gaps. Methods: A systematic search was conducted (three databases, April 2024). Articles were included if they used a tool to triage to physical health services. Tools were classified by triaged disciplines (i.e., diet, exercise, physical rehabilitation, multidisciplinary) and screened physical impairments (e.g., malnutrition). Tool characteristics (e.g., triage …

Determining Risk Factors And Rate Of Surgery After Collagenase Injections For Dupuytren Contracture, Ryan C. Cha, Juliet S. Chung, Sina Ramtin, Asif M. Ilyas

Department of Orthopaedic Surgery Faculty Papers

Purpose: Collagenase injections are a nonsurgical treatment for Dupuytren contracture, but their long-term effectiveness in preventing surgery remains unclear. This study aimed to evaluate the rate of surgical intervention following collagenase treatment and identify whether specific risk factors increase the likelihood of future surgical correction. Methods: This retrospective cohort study utilized the TriNetX US Collaborative network to identify patients diagnosed with Dupuytren contracture between January 2007 and September 2024. Patients initially treated with collagenase injections were identified using relevant current procedural terminology codes. Procedure-specific current procedural terminology codes were then used to determine which patients underwent a subsequent fasciectomy or …

A Novel “Stairstep” Approach To The Management Of Extreme Hypernatremia Using Continuous Kidney Replacement Therapy And Hypertonic Saline, Bahar Barani, Xuexin Lu, Darcy Weidemann, Judith Vansickle, Vimal Chadha, Nathan Beins

Posters

Hypernatremia is defined as a serum sodium greater than 145 mEq/L and is due to either a deficit of free water or excess sodium intake. Extreme hypernatremia (sodium level > 190 mEq/L) is immediately life–threatening with mortality rates > 60%. It is especially challenging to avoid complications, such as permanent neurological injury, respiratory failure, and profound electrolyte derangement, when children are in kidney failure. Established guidelines are lacking for correcting such extreme levels due to a paucity of information in the literature, although general recommendations are to decrease levels by no more than 10-12 mEq/L per day to prevent neurological complications. We …

Recombinant Erythropoietin Use For Anemia Of Prematurity: A Three Year Since Center Experience, Hannah Darland, Krishna Dummula, Chaitali Mahajan, Vishal Pandey

Posters

Background: Anemia is a common disorder of prematurity secondary to limited blood volume, excessive blood draws, inadequate nutrition, poor iron reserves, and insufficient endogenous erythropoietin. While many NICUs use recombinant erythropoietin (rEpo) to treat anemia of prematurity, the absence of universal guidelines has led to variability in dosing and schedules. Here we present our experience on the use of rEpo in a level 3 NICU. Our unit protocol uses 400 IU/kg three times a week for a total of 9 doses if hematocrit < 30%. Objectives: The purpose of this study was to evaluate the response to rEpo in infants with anemia of prematurity. Methods: Charts of infants born between 2018 and 2020 with gestation ≤34 weeks who received rEpo for anemia of prematurity were retrospectively reviewed. We defined response to therapy as an increase of hematocrit by 5% from pre-treatment baseline. Infants who did not achieve the therapeutic goal or who received blood transfusions were considered non-responders. Neutropenia, thrombocytopenia, and retinopathy of prematurity (ROP) requiring treatment were treated as adverse events. Results: A total of 44 infants were treated with rEpo during the study period. Clinical characteristics are described in Table I. Average hematocrit at birth was 44.8±7.5 (32.7 to 60.8). Infants were started on rEPO at a median corrected age of 33.3 ±3 weeks and a weight of 1674±622 g. Average DOL was 37±18 at initiation of therapy. Average baseline hematocrit at the start of therapy was 27.9±1.8%. 80% of patients (35/44) responded with increase of hematocrit by >5%, 20% (9/44) did not respond. 75% of infants (33/44) received all 9 doses. 11 patients received …

No Suspicion For Nocarh: A Cautionary Tale Of Anchoring Bias, Nicole Demarco, Julia Allyson Hays, Bonnie Sullivan, Michael Price, Kimberly A. Horii, Shannon Haines

Posters

Introduction: Neonatal onset of cytopenia autoinflammation rash and hemophagocytic lymphohistiocytosis syndrome (NOCARH), a subset of hemophagocytic lymphohistiocytosis (HLH), is a rare and life-threatening condition characterized by uncontrolled immune response. It presents a diagnostic challenge in neonates due to the overlap of clinical features with other conditions, particularly congenital infections. We report a case of NOCARH in a late pre-term neonate, highlighting an atypical age group and the diagnostic difficulty of this syndrome. Case Presentation: A 1 day old ex-35 week er neonate presented to a level 4 NICU with chief complaints of pancytopenia,; an extensive petechialmaculopapular rash of on the …

Phenotypic Divergence Of Jag1- And Notch2-Associated Alagille Syndrome & Disease-Specific Notch2 Variant Classification Guidelines., Shannon M. Vandriel, Li-Ting Li, Huiyu She, Jian-She Wang, Kathleen M. Loomes, David A. Piccoli, Irena Jankowska, Piotr Czubkowski, Dorota Gliwicz-Miedzińska, Lorenzo D'Antiga, Emanuele Nicastro, Florence Lacaille, Dominique Debray, Étienne M. Sokal, Tanguy Demaret, Rima L. Fawaz, Silvia Nastasio, Kyung Mo Kim, Seak Hee Oh, Björn Fischler, Henrik Arnell, Catherine Larson-Nath, Winita Hardikar, Sahana Shankar, Shikha S. Sundaram, Alexander Chaidez, Pinar Bulut, Pier Luigi Calvo, Mureo Kasahara, Niviann Blondet, Eberhard Lurz, Anna-Maria Kavallar, Emmanuel M. Gonzales, Emmanuel Jacquemin, Jérôme Bouligand, Noelle H. Ebel, Jeffrey A. Feinstein, Susan M. Siew, Michael O. Stormon, Saul J. Karpen, Rene Romero, M Kyle Jensen, Catalina Jaramillo, James E. Squires, Sarah M. Bedoyan, Deirdre A. Kelly, Jane Hartley, Henkjan J. Verkade, Way Seah Lee, Chatmanee Lertudomphonwanit, Ryan T. Fischer, Henry C. Lin, Nathalie Rock, Yael Mozer-Glassberg, Amin J. Roberts, Helen M. Evans, Wikrom Karnsakul, Gabriella Nebbia, Victorien M. Wolters, Pamela L. Valentino, Jesus Quintero Bernabeu, Amal A. Aqul, Cigdem Arikan, María Legarda Tamara, Cristina Molera Busoms, Thomas Damgaard Sandahl, Giuseppe Indolfi, Andréanne N. Zizzo, Aglaia Zellos, Ruben E. Quiros-Tejeira, Ermelinda Santos-Silva, Kathleen B. Schwarz, Jernej Brecelj, Maria Camila Sanchez, Maria Lorena Cavalieri, Christos Tzivinikos, Sabina Wiecek, John Eshun, Nanda Kerkar, Quais Mujawar, Zerrin Önal, Cristina Gonçalves, Jennifer Garcia, Seema Alam, Carolina Jimenez-Rivera, Luis Bujanda, Richard J. Thompson, Bettina E. Hansen, Nancy B. Spinner, Melissa A. Gilbert, Binita M. Kamath, Global Alagille Alliance (Gala) Study Group

Manuscripts, Articles, Book Chapters and Other Papers

BACKGROUND & AIMS: Alagille syndrome (ALGS) is a rare, autosomal dominant disorder with high phenotypic heterogeneity. Disease-causing variants are primarily identified in Jagged1 (JAG1), with fewer reported in NOTCH2. JAG1 variants cause disease through a mechanism of haploinsufficiency, but the mechanism for NOTCH2 variants is not completely understood, making classification of variants more challenging. Using a large, international patient cohort acquired through the Global ALagille Alliance (GALA) study, we sought to improve classification of NOTCH2 variants and study phenotypic differences between NOTCH2- and JAG1-related disease.

METHODS: Clinical and molecular data from 952 individuals with ALGS in GALA were analysed and …

Lumbar Microdiscectomy: A Rare Case Of A Duplicate L5 Exiting Nerve Root., Sahil Garg, Sean M Muir, Arianna K Gill, Komi E Afetse, Sanjitpal S Gill

Surgery Articles

The microdiscectomy procedure has been regarded as the preferred method for the treatment of lumbar disc herniation (LDH). Intraoperatively, the procedure may be further complicated due to underlying anatomical variations in the lumbar spine or nerve root variations. Nerve root anomalies (NRAs), in particular, are relatively underdiscussed within the literature. Despite the rarity of these variations to the exiting nerve root, the increased surgical risk that an NRA may add warrants the need for increased awareness and associated complication mitigation. This case describes a rare instance of a symptomatic duplicate L5 nerve root discovered preoperatively and highlights the steps taken …

Use Of Perioperative Scores In Predicting Postoperative Event And Selection For Discharge After Elective Laparoscopic Cholecystectomy: A Retrospective Cohort Study, Brian Nyamweya Bundi

Master of Medicine in General Surgery

Background: While daycare laparoscopic cholecystectomy is gaining momentum in developed countries, a majority of patients in low and middle-income countries are admitted overnight. This safety precaution offers prompt access to emergency services should need arise. This precautional overnight stay has implications on cost, healthcare utilization and patient satisfaction. Daycare procedures routinely utilize scoring systems for assessing discharge readiness. We explored the utility of the modified Surgical APGAR Score (mSAS) and the White Fast Track Score (WFTS) as predictors for postoperative events and their role in identifying patients who can have a safe daycare discharge after laparoscopic cholecystectomy in this retrospective …

Identifying The Barriers And Facilitators To Guideline-Concordant Breast Cancer Surgical Care In Kenya: A Sequential Mixed Method Study, Emmanuel Marsuk Lomole

Master of Medicine in General Surgery

Introduction 

Breast cancer represents the most commonly diagnosed cancer in women. In Kenya, it constitutes 20% of all cancer diagnoses as well as the second most common cause of cancer related death in the country, with a 5-year survival between 40.1% and 64%. There exists heterogeneity in the delivery of breast cancer care despite the presence of guidelines that can standardize care and that have been contextualized for Sub-Saharan Africa. There is paucity of data on barriers and facilitators of guideline-concordant breast cancer surgical care.

Setting 

The Aga Khan University Hospital Nairobi.

Aim 

The purpose of this study was to …

Platelet Transfusion Practices In The Icu: A Prospective Multicenter Cohort Study, Van Stefan, Raasveld Jorinde, Andrew Flint, Jimmy Schenk, Claudia Van Den Oord, Merijn Reuland, Sanne De Bruin, Jan Bakker, Maurizio Cecconi,, Marcus Lance

Anaesthesiology, East Africa

Objective: There is a lack of comprehensive international data regarding platelet transfusion practices in the ICU. This study aimed to evaluate the current occurrence rate of platelet transfusion in the ICU and provide an overview of platelet transfusion practices including indications for a platelet transfusion, thresholds, (non-)adherence and geo-economic region variations.

Design: International prospective cohort study.

Setting: Two hundred thirty-three centers in 30 countries worldwide.

Patients: All patients 18 years old and older, admitted to the ICU during a single study week, selected by each site from one of the 16 predefined weeks (March 2019 to …

Unplanned Hospitalization Among Advanced Prostate Cancer Patients By Diabetes Status: A Population-Based Study, Amy L. Shaver, Krupa Gandhi, Scott W. Keith, Nikita Nikita, Christopher C. Yang, Felix J. Kim, Hushan Yang, William K. Kelly, Stephen J. Freedland, Grace Lu-Yao

Kimmel Cancer Center Faculty Papers

BACKGROUND: Older adults with advanced prostate cancer and type 2 diabetes mellitus are underrepresented in trials of androgen receptor pathway inhibitors. This study examined changes in unplanned hospitalization rates in patients receiving androgen receptor pathway inhibitors by type 2 diabetes mellitus status and assessed if unplanned hospitalization varies according to androgen receptor pathway inhibitors.

METHODS: This population-based study of advanced prostate cancer patients aged older than 66 years used Surveillance, Epidemiology, and End Results-Medicare data. Prepost androgen receptor pathway inhibitor initiation changes and androgen receptor pathway inhibitor differences in unplanned hospitalization rates were estimated by adjusted incidence rate ratio with …

Catheter Erosion Through The Rectum 8 Years After Uncomplicated Ventriculoperitoneal Shunt Placement: Illustrative Case, Matthew Wierzbicki, India Shelley, Matthews Lan, Aria Mahtabfar, Christopher J. Farrell

Department of Neurosurgery Faculty Papers

BACKGROUND: Distal bowel perforation by peritoneal catheter (BPPC) is a rare complication following ventriculoperitoneal shunt (VPS) placement for the treatment of hydrocephalus. In some cases, BPPC may present with extrusion through the anus and can occur years after VPS placement.

OBSERVATIONS: The authors report the case of a 30-year-old woman who had a VPS placed 8 years prior and found a catheter protruding from her rectum. Having pulled out 1 foot of catheter, she presented to the hospital where the shunt was externalized before concurrent VPS removal and laparotomy to repair the bowel perforation.

LESSONS: BPPC with anal extrusion is …

Actin Up And Factor’D In: ​ A Pediatric Spindle Cell Lesion Case Presentation, Michael Higham, Stephanie Campbell, Naomie Jean, Amanda Killeen

School of Podiatric Medicine Publications

Introduction: Solitary spindle cell nodules on the foot in pediatric patients are rare and diagnostically challenging. Dermatofibroma (benign fibrous histiocytoma), a common adult dermal lesion, is infrequently observed in children under 18.

The spectrum of pediatric spindle cell tumors includes reactive entities like nodular fasciitis and dermatomyofibroma, benign neoplasms such as myofibroma, and malignant tumors including spindle cell rhabdomyosarcoma, fibrosarcoma, and dermatofibrosarcoma protuberans (DFSP). Accurate differential diagnosis is essential, as DFSP requires wide excision or Mohs surgery to reduce recurrence risk.

Methods (Case Presentation): An 11-year-old boy presented with a one-year history of a non-healing lesion on the heel, initially …

Parent Needs, Recommendations, And Systemic Challenges Affecting Pediatric Hypertension Detection, Abbas H. Zaidi, Erica D. Sood, Sarah De Ferranti, Samuel Gidding, Varsha Zadokar, Jonathan M. Miller, Anne E Kazak

Department of Pediatrics Faculty Papers

Pediatric hypertension (HTN) affects 3%-5% of children in the United States, yet only 25% are diagnosed and 60% lack recommended follow-up care. Skepticism about elevated blood pressure (BP) readings and reluctance to use antihypertensive medications by parents and clinicians highlight the need for stakeholder-informed strategies to address these challenges. This study examined parents' perceived needs, their recommended strategies to improve HTN detection, and contextual health system challenges. Parents and clinicians from 10 pediatric primary care clinics participated in semi-structured qualitative interviews. Only parents of children with documented stage 2 BP readings and a HTN diagnosis, but with gaps in care …

Epidemiology And Microbiology Of Admission Surveillance Nasal Swabs In A Level Iv Neonatal Intensive Care Unit (Nicu) And Their Association With Subsequent Infections ​, Kedar Tilak, Neena Kanwar, Rangaraj Selvarangan, Venkatesh Sampath

Posters

Background Newborns, especially preterm infants, are highly susceptible to sepsis, a major cause of neonatal morbidity and mortality. Known risk factors include prematurity, low birth weight, prolonged NICU stay, and use of central venous catheters. The link between early nasal colonization (within the first week of life) and later infections is unclear. Although many NICUs screen for Staphylococcus aureus using nasal swabs, the predictive value of early colonization by other Gram-positive and Gram-negative bacteria is not well understood. In our NICU, admission nasal swabs were sent for aerobic cultures to detect these organisms, highlighting the need for further research into …

Pursuit Of A Full Night's Sleep, Kennison Adams, Andrew Donaldson, Brian S. Harvey

Posters

This project was a literature review and reflection upon the importance of having an osteoid osteoma on the differential for adolescent hip pain. The primary objective highlighted key attributes of this pathology and instructed readers to be vigilant in their assessment so that quicker diagnosis, management, and return to sport could occur.

Cerebral Palsy Screening, Children's Mercy Kansas City

Clinical Pathways

No abstract provided.

Fever In The Returned Traveler, Children's Mercy Kansas City

Clinical Pathways

No abstract provided.

Synthetic Zfta Fusions Pinpoint Disordered Protein Domain Acquisition As A Mechanism Of Brain Tumorigenesis, A Arabzade, H K Shirnekhi, S Varadharajan, S M Ippagunta, A H Phillips, N Laboe, D W Baggett, Wahiduzzaman, M Jo, T Zheng, R Pathak, D Gee, D Bhimsaria, H Wu, X Gao, J Liu, E Emanus, A Bland, A Kardian, A Hancock, B Holcomb, T Wright, T Bugbee, H Sun, M Zhai, E Caesar, M Park, S Tripathi, A Shirinifard, K Lowe, A Khalighifar, R A Petersen, S King, D Stabley, A Pitre, G E Campbell, C-G Park, W T Freyaldenhoven, B Chandra, Y Xia, E Bonten, A Achari, S Kandikonda, A Carisey, S B Pounds, J Xu, D W Ellison, B Deneen, K C Bertrand, R W Kriwacki, S C Mack

Children’s Nutrition Research Center Staff Publications

Over 95% of ependymomas that arise in the cortex are driven by a gene fusion involving the zinc finger translocation-associated (ZFTA) protein. Here, using super-resolution and lattice light-sheet microscopy, we demonstrate that the most frequent fusion variant, ZFTA-RELA (ZR), forms dynamic nuclear condensates that are required for oncogene expression and tumorigenesis. Mutagenesis studies of ZR reveal a key intrinsically disordered region (IDR) in RELA that governs condensate formation. Condensate-modulating IDR mutations introduced into ZR impaired its genomic occupancy at oncogenic loci and inhibited the recruitment of transcriptional effector proteins, such as MED1, BRD4 and RNA polymerase II. Using nuclear magnetic …

Randomized Trial: Peppermint Oil (Menthol) Pharmacokinetics In Children And Effects On Gut Motility In Children With Functional Abdominal Pain: 540 Mg Vs. 900 Mg Dose Comparison, Robert J Shulman, Bruno P Chumpitazi, Daniel Gonzalez, Uttam Garg, Salma Musaad, Jiali Wen, Gregory L Kearns

Children’s Nutrition Research Center Staff Publications

Aims: There is a paucity of information on the pharmacokinetics (PK) and pharmacodynamics (PD) of menthol, the active ingredient in peppermint oil (PMO). We studied the PK of menthol (540 and 900 mg) in children and measured their effects on gut transit/contractility.

Methods: Children 7-12 years of age with functional abdominal pain underwent wireless motility capsule (WMC) testing. One week later, they were randomized to 540 mg or 900 mg of oral enteric-coated PMO. Blood was sampled over 24 h to determine menthol PK. The WMC test was repeated while they took their respective dose (180 mg thrice or 180 …