Digital Commons Network^™

Subtype-Specific Her3 Enrichment In Basal-Like Breast Cancer Is Regulated Via The Gata2/Gata3–Foxa1 Axis, Congcong Tan, Hui Lyu, Sanbao Ruan, Yakun Wu, Margaret E. Larsen, Shou Ching Tang, Bolin Liu

School of Medicine Faculty Publications

Basal-like breast cancer (BLBC) is a major subtype of triple-negative breast cancer (TNBC), characterized by aggressive behavior, limited treatment options, and poor prognosis. While HER3 overexpression is frequently observed in TNBC and associated with poor outcomes, its subtype-specific expression and therapeutic potential remain unclear. Here, we demonstrated that HER3 signaling is selectively hyperactivated in BLBC compared to claudin-low breast cancer (CLBC) using transcriptomic profiling. Histone deacetylase inhibitors (HDACi), Romidepsin and Panobinostat, exerted potent antitumor effects on BLBC by selectively downregulating HER3 expression. HER3 levels were positively correlated with FOXA1, a key transcriptional activator. Mechanistically, we identified GATA2 and GATA3 as …

Periprocedural Results And Right Ventricular Outcomes Of Computer Assisted Vacuum Thrombectomy Treatment Of Acute Pulmonary Embolism: Interim Analysis Of 300 Patients From The Strike-Pe Study, John M. Moriarty, Brian J. Schiro, Suhail Y. Dohad, Houman Tamaddon, Hugh C. Davis, David M. Shavelle, George S. Chrysant, Elias A. Iliadis, David J. Dexter, Juan J. Ciampi Dopazo, Andrew Holden, Frances M. West, Brent Keeling, Andrew S. P. Sharp, Ido Weinberg

Division of Pulmonary, Allergy, and Critical Care Medicine Faculty Papers

BACKGROUND: Pulmonary embolism (PE) can be a life-threatening condition. Endovascular treatment is emerging as a promising treatment to restore hemodynamic stability and reverse right ventricular (RV) dysfunction in PE; however, more studies are needed to elucidate the effects on the right ventricle after endovascular treatment. This analysis reports the effects of computer assisted vacuum thrombectomy on RV function.

METHODS: Eligible patients for the single-arm, prospective, international, multicenter STRIKE-PE (A Prospective, Multicenter Study of the Indigo Aspiration System Seeking to Evaluate the Long-Term Safety and Outcomes of Treating Pulmonary Embolism) cohort study are adults with acute PE with symptoms for ≤14 …

Genome-Wide Insights Into The Genes And Pathways Shaping Human Foveal Development: Redefining The Genetic Landscape Of Foveal Hypoplasia, Callum Hunt, Ha-Jun Yoon, Alvin Lirio, Kayesha Coley, Jun Wang, Nick Shrine, Jianming Shao, Gail D E Maconachie, Zhanhan Tu, Jonathan H Zippin, Pirro G Hysi, Christopher J Hammond, Omar A Mahroo, Mariya Moosajee, Michel Michaelides, Andrew R Webster, Ala Moshiri, Rui Chen, Martin D Tobin, Chiara Batini, Mervyn G Thomas, Uk Biobank Eye And Vision Consortium

Faculty, Staff and Students Publications

Purpose: To define the genetic architecture of foveal morphology and explore its relevance to foveal hypoplasia (FH), a hallmark of developmental macular disorders.

Methods: We applied deep-learning algorithms to quantify foveal pit depth from central optical coherence tomography (OCT) B-scans in 61,269 UK Biobank participants. A genome-wide association study (GWAS) was conducted using REGENIE, adjusting for age, sex, height, and ancestry. Rare coding variants (frequency < 1%) were analyzed in an exome-wide rare-variant association study (RVAS). Candidate genes were prioritized using integrative mapping; pathway, cross-ancestry, and genetic-correlation analyses were exploratory.

Results: GWAS identified 126 sentinel variants, including 47 novel associations. Integrative mapping prioritized 129 putative causal genes, with 64 not previously implicated in foveal biology. Enriched pathways included retinoic acid metabolism (e.g., CYP26A1), photoreceptor differentiation …

Commensal Colonization Of Candida Albicans In The Mouse Gastrointestinal Tract Is Mediated Via Expression Of Candidalysin And Adhesins, Kelsey E Mauk, Pedro Miramón, Michael C Lorenz, Léa Lortal, Julian R Naglik, Bernhard Hube, Lynn Bimler, Farrah Kheradmand, David B Corry

Faculty, Staff and Students Publications

The ubiquitous fungal pathogen Candida albicans has the potential to either asymptomatically colonize the gastrointestinal (GI) tract or become an invasive pathogen through mechanisms that remain incompletely understood. Here we explored the fungal, host, and environmental factors that influence the ability of C. albicans to colonize the mouse GI tract using a representative clinical strain, CLCA10. After a single gavage challenge (5 × 106 CFU C. albicans), specific pathogen-free (SPF) mice remained colonized with C. albicans strain CLCA10, but not other Candida species, for at least 58 days with the fungus confined largely to the gut luminal …

Encapsulation Of Disease-Causing And Commensal Mitis Group Non-Pneumococcal Streptococci, Daniel M Musher, Mathias Müsken, M John Hicks, Lesley Mcgee, Bernard Beall

Faculty, Staff and Students Publications

Background: Mitis group non-pneumococcal streptococci (MGNPS), specifically Streptococcus mitis, Streptococcus infantis and Streptococcus oralis, have recently been shown to cause pneumonia and/or bacteremia. These organisms often have capsular (cps) operons resembling those in pneumococci, and some express cps-generated polysaccharides that antigenically cross-react with pneumococcal capsular serotypes. But, to date, a series of MGNPS isolates has not been studied by electron microscopy (EM) for the presence of a capsule.

Methods: We studied 21 MGNPS; 11 were isolated from sputum and determined to have caused pneumonia, 3 were isolated from blood, and 7 were commensal isolates cultured …

Targeting Aldh16a1 Mediated Thioredoxin Lysosomal Degradation To Enhance Ferroptosis Susceptibility In Smarca4-Deficient Nsclc, Guoshu Bi, Jiaqi Liang, Yunyi Bian, Guangyao Shan, Shencheng Ren, Haochun Shi, Xiaolong Huang, Junkan Zhu, Qun Wang, Wei Jiang, Boyi Gan, Cheng Zhan

Faculty, Staff and Student Publications

Ferroptosis, an iron-dependent form of cell death, holds promise for cancer therapy. However, the intricate link between ferroptosis and oncogenic mutations remains unclear. Here we show that SMARCA4, a well-established tumour suppressor whose deficiency is associated with poor prognosis and resistance to treatments, sensitizes non-small cell lung cancer (NSCLC) cells to ferroptosis. Mechanistically, SMARCA4 promotes chromatin accessibility and expression of ALDH16A1. Surprisingly, ALDH16A1 lacks ALDH enzymatic activity, but binds to the anti-ferroptotic oxidoreductase thioredoxin (TXN), facilitating its translocation to the lysosome and subsequent degradation. Meanwhile, ALDH16A1 directly inhibits TXN's oxidoreductase function by occluding its active site. We also show that …

Inhibition Of Mcl-1 And Mek Overcomes Mek Inhibitor Resistance In Triple-Negative And Inflammatory Breast Cancers, Mohd Mughees, Moises Tacam, Alex W Tan, Mary Kathryn Pitner, Lakesla R Iles, Xiaoding Hu, Emilly S Villodre, Bisrat G Debeb, Takahiro Kogawa, Bora Lim, Rachel M Layman, Wendy A Woodward, Naoto T Ueno, Debu Tripathy, Savitri Krishnamurthy, Yuan Qi, Lajos Pusztai, Jian Wang, Varsha Gandhi, Geoffrey Bartholomeusz, Chandra Bartholomeusz

Faculty, Staff and Student Publications

The MAPK pathway can drive resistance in highly aggressive breast cancers. Our previous work showed that the MEK inhibitor (MEKi) AZD6244 (selumetinib) prevented lung metastasis in a breast cancer xenograft model. In clinical studies, MEKis as single agents have had only modest activity against solid tumors due to the onset of resistance. Using synthetic lethality siRNA screening, we identified myeloid cell leukemia-1 (MCL-1) as a potential contributor to AZD6244 resistance. We hypothesized that MCL-1 promotes MEKi resistance in highly aggressive breast cancers and that MCL-1 inhibition overcomes AZD6244 resistance. We established two AZD6244-resistant cell lines: MDA-MB-231-R (triple-negative breast cancer) and …

Trends In Radiation Use From 2004 To 2020 Among Adolescents And Young Adults With Hodgkin Lymphoma, Kelsey L Corrigan, Amy M Berkman, Jillian Gunther, Clark R Andersen, Susan Wu, Amber Gibson, Branko Cuglievan, Miriam B Garcia, Gohar Manzar, Penny Fang, Brian De, Sairah Ahmed, Cesar Nunez, Michelle A T Hildebrandt, David C Mccall, Susan K Parsons, Michael E Roth

Faculty, Staff and Student Publications

Background: Hodgkin lymphoma has excellent survival rates in adolescents and young adults (AYA, diagnosed between ages 15 and 39 years). However, survivors are at risk of treatment-related late effects. Whereas radiotherapy (RT) de-escalation/omission has emerged as an approach to minimize late effects, no prior studies have evaluated RT use over time in AYAs with Hodgkin lymphoma.

Methods: Using the National Cancer Database, we identified 40,717 AYAs diagnosed with Hodgkin lymphoma between 2004 and 2020. Differences in sociodemographic and clinical variables were assessed using a two-sample two-sided t test or χ2 test. RT use was summarized per year by frequency with …

Efficacy Of Atr Kinase Inhibitor Elimusertib Monotherapy Or Combination In Tumors With Dna Damage Response Pathway And Other Genomic Alterations, Kaushik Varadarajan, Christian X Cruz Pico, Kurt W Evans, Maria Gabriela Raso, Yasmeen Qamar Rizvi, Xiaofeng Zheng, Dhruv Chachad, Timothy P Diperi, Bailiang Wang, Stephen M Scott, Ming Zhao, Argun Akcakanat, Antje M Wengner, Timothy A Yap, Funda Meric-Bernstam

Faculty, Staff and Student Publications

The ataxia telangiectasia and RAD3-related (ATR) kinase functions with ataxia telangiectasia-mutated (ATM) kinase as a modulator of DNA damage response (DDR). We assessed the antitumor effects of the ATR inhibitor elimusertib (BAY-1895344) in patient-derived xenograft (PDX) models with DDR alterations. Antitumor activity was assessed by change in tumor volume (TV) from baseline. Responses were categorized as follows: partial response (PR), ≥30% decrease in TV; ≥20% increase in TV, progressive disease; and non-PR/progressive disease, stable disease (SD). Event-free survival was defined as time for tumor doubling (EFS-2). Of 21 PDX models tested, 11 had significant prolongation of EFS-2 with elimusertib monotherapy. …

Clinical Testing For Covid-19, Influenza, And Rsv In Hospitalized Youths, 2016-2024., Ariana P. Toepfer, Rachel E. Rutkowski, Leila C. Sahni, Geoffrey A. Weinberg, Marian G. Michaels, Rangaraj Selvarangan, Mary Allen Staat, Natasha Halasa, Janet A. Englund, Julie A. Boom, Peter G. Szilagyi, Jennifer E. Schuster, Elizabeth P P. Schlaudecker, Laura S. Stewart, Eileen J. Klein, Samantha M. Olson, Sascha Ellington, Meredith L. Mcmorrow, Heidi L. Moline, Fatimah S. Dawood, New Vaccine Surveillance Network Collaborators

Manuscripts, Articles, Book Chapters and Other Papers

IMPORTANCE: Studies of COVID-19, influenza, and respiratory syncytial virus (RSV) disease clinical epidemiology, disease burden, and vaccine effectiveness often rely on clinical testing to identify cases, particularly with increasing use of electronic health record data. However, few data are available describing clinical testing practices to inform interpretation of these studies.

OBJECTIVE: To characterize clinical testing frequency for SARS-CoV-2, influenza, and RSV among children and adolescents hospitalized with acute respiratory illness during the 2016 to 2024 respiratory illness seasons by age, intensive care unit admission, and time period (2016-2020 and each season in 2020-2024); estimate the case fraction missed by clinical …

What Next? A Challenging Case Of Refractory Hypertension With End-Organ Dysfunction In A 33-Year-Old Male, Rezane Miftari Md, Shaun Abid, Anton Stolear, Irma Fotjhadi

Posters

We present a challenging case of a 33-year-old male with history of longstanding hypertension since high school, which progressed to RH complicated by severe left ventricular hypertrophy and hypertensive nephrosclerosis.

Premenopausal Transition In Neurodivergent Women With Musculoskeletal Syndromes: Mechanisms, Risks, And Neuroinclusive Therapeutics, Piper Hutson, James Hutson

Faculty Scholarship

Neurodivergent women with chronic musculoskeletal syndromes experience disproportionate premenopausal symptom burdens that are poorly characterized in extant clinical paradigms and practice. The compounded interplay of estrogen fluctuations in premenopause with sensory–executive differences and baseline nociception from joint or connective-tissue pathology yields intensified pain, mood dysregulation, and functional decline. Evidence indicates estrogen modulates nociception, neuroinflammation, bone remodeling, and monoaminergic signaling; premenopausal variability magnifies pain, affective lability, and cognitive drift—effects accentuated in autism and ADHD. Coexisting hypermobility, fibromyalgia, or connective-tissue disorders compromise joint integrity and proprioception, increasing susceptibility to estrogen-dependent changes in bone microarchitecture and tendon homeostasis. This article advances an integrative …

Airway Management In Patients With Vocal Cord Paralysis: A Review Of Intubation Techniques, Intraoperative Challenges, And Outcomes., Rayyan Bhutta, Ali Osman, Tala Maya, Justin Ma, Ali Al Saeed, Sumit Sidhu, Mariya Wood, Bilal Akhtar, Sirimas Lau, Matthias Franzen

Surgery Articles

Vocal cord paralysis (VCP) presents with unique challenges when managing airways, particularly during endotracheal intubation. This literature review explores the effects of unilateral and bilateral VCP on intubation technique, first-pass success, extubation safety, and perioperative airway planning. While video laryngoscopy (VL) is becoming increasingly favored for its superior airway visualization, it does not always confirm successful placement in patients with VCP. Complications such as airway edema, aspiration risk, and cuff misplacements are increased in this patient population, and they may be more vulnerable to post-extubation complications, especially without the use of steroid prophylaxis or intensive post-operative planning. A comparison of …

Mycobacterium Genavense-Induced Spindle Cell Pseudotumor Presenting With Symptoms Of Giant Cell Arteritis., Britney Le, Guilherme Kuceki, Jamie Zussman

Ambulatory and Primary Care Articles

No abstract provided.

Clinical Uptake Of An Antigen-Based Approach To Membranous Nephropathy: A Survey Of General Nephrologists And Glomerular Disease Experts., Eibhlin Goggins, Andrew Delaat, Bryce Barr, Jonathan Taliercio, Ali Mehdi, Georges Nakhoul, Brendan Bowman, Corey Cavanaugh

Ambulatory and Primary Care Articles

BACKGROUND: In recent years, there has been an emergence of new antigens discovered in membranous nephropathy (MN). Whether these antigens have impacted the approach to, and management of, MN patients undertaken by nephrologists is still unclear.

METHODS: We conducted a cross-sectional international survey pertaining to 13 antigens recently discovered in MN. The survey was distributed by the National Kidney Foundation, direct emails, and social media.

RESULT: PLA2R, THSD7A, NELL1, and EXT1/2 testing were readily available while the most common response for other antigen testing was 'Not Performed' or 'Unknown'. All respondents had tested for or treated PLA2R-positive MN. Of 79 …

Critical Care Cadets: A Serious Game For Managing Mechanical Ventilation, Daniel Hassumani, Satid Thammasitboon, Fong Lam, Aarti Bavare, Moushumi Sur, Shelley Kumar, Thomas Reeves, Brian Rissmiller

Faculty, Staff and Students Publications

Background: Pediatric critical care medicine (PCCM) fellows require proficiency in mechanical respiratory support and ventilator management strategies. Traditional training methods have limitations, and there is a need to expedite the learning process. Serious games have emerged as effective supplements to traditional teaching methods, promoting knowledge acquisition through immersive and engaging experiences. However, there is a void in the context of complex decision making in mechanical ventilation management.

Objective: To develop a serious game to enhance the knowledge and practical strategies of PCCM fellows in mechanical ventilation management.

Methods: The game was designed on the basis of theory-informed design principles and …

Postoperative Staphylococcal Toxic Shock Syndrome In A Patient Following Right Knee Fracture Repair: A Case Report, Nicole Nyamongo, James Garritano, Daniel Rosen, Theodore Rosen

Faculty, Staff and Students Publications

Toxic shock syndrome (TSS) is a rare but life-threatening multisystem disorder most commonly caused by Staphylococcus aureus. It is characterized by the acute onset of high fever, hypotension, a diffuse macular rash, and multiorgan involvement. We report the case of a male in his late 30s who sustained a patellar fracture with associated retinacular injury following trauma and subsequently underwent open reduction and internal fixation. Several days after discharge, he developed fever, chills, hypotension, and a pruritic, erythematous rash. He was readmitted and initially evaluated by the orthopedic service, which did not recommend additional imaging or surgical intervention, as …

One-Year Outcomes From The Pivotal Trial Of A Four-Branch Off-The-Shelf Solution To Treat Pararenal And Extent Iv Thoracoabdominal Aortic Aneurysms, Mark A Farber, Sukgu Han, Michel S Makaroun, Jon S Matsumura, Bernardo C Mendes, Gustavo S Oderich, Luis A Sanchez, Bjoern D Suckow, Carlos H Timaran

Faculty, Staff and Students Publications

Objective: To report 1-year primary-arm outcomes of the GORE EXCLUDER Thoracoabdominal Branch Endoprosthesis pivotal trial.

Methods: The multicenter, nonrandomized, prospective study included patients with extent IV thoracoabdominal aortic aneurysms (TAAAs) and pararenal aortic aneurysms (PRAAs). All-cause and adjudicated lesion-related mortality were assessed at 12 months. Core-lab-reported, imaging-dependent outcomes included aneurysm size, endoleaks assessed through 1-year follow-up window, and target vessel instability (defined as occlusion, stenosis, type Ic/IIIc endoleak, or reintervention) at 1 year.

Results: One hundred two patients were treated; 59 patients had an extent IV TAAA and 43 had a PRAA. The mean maximum aneurysm diameter was 59.4 ± …

Changes In Child Placement After Child Abuse Pediatrics Consultation For Suspected Physical Abuse, Kristine A Campbell, Antoinette L Laskey, Daniel M Lindberg, M Katherine Henry, Porcia Vaughn, James D Anderst, Megan M Letson, Angela N Bachim, Nancy S Harper, Carmen M Coombs, Lori D Frasier, Joanne N Wood

Faculty, Staff and Students Publications

Background: The association between child abuse pediatric (CAP) assessments and child welfare outcomes is unknown.

Objective: To determine the association between a CAP determination of the likelihood of physical abuse and change in child placement. We hypothesized that child race would be associated with CAP determination of abuse likelihood and child welfare outcomes.

Participants and setting: Children under age ten years with in-person CAP consultation and referral to child protective services for suspected physical abuse at a U.S. pediatric referral center participating in CAPNET, a CAP research network, from 02/2021 to 01/2023.

Methods: We created a series of generalized estimating …

Steroids For Pediatric Adenotonsillectomy Pain-A Prospective Multicenter Randomized Trial, Kevin D Pereira, Wiktoria A Gocal, Anna V Borodianski, Mary E Williamson, Hengameh K Behzadpour, Sonal Saraiya, Diego A Preciado, Amal Isaiah

Faculty, Staff and Students Publications

Objective: To compare postoperative caregiver-reported pain control of two steroid regimens following pediatric adenotonsillectomy. Secondary objectives assessed differences in analgesic use, return to normal diet, caregiver calls, adverse effects, and emergency room (ER) visits.

Study design: Prospective randomized pragmatic trial.

Setting: Three academic tertiary care children's hospitals.

Methods: Healthy children aged 3 to 10 undergoing adenotonsillectomy were recruited and randomly assigned to receive either 0.6 mg/kg dexamethasone on postoperative day 3 or prednisolone 0.5 mg/kg days 1 to 3. Both groups continued standard weight-based regimens of acetaminophen and ibuprofen. A blinded research team member performed postoperative telephone surveys using the …

Wound-Healing And Onboard Care During Long-Duration Human Deep Space Exploration From A Surgical Perspective Through The Lens Of A Scoping Review, Dora Babocs, Krishi Korrapati, Cooper Lytle, Monika L Gloviczki, Gustavo S Oderich, M Mark Melin, Rowena Christiansen

Faculty, Staff and Students Publications

Objective: The aim of this study was to develop a bridge between the fields of aerospace medicine and vascular surgery, and to emphasize the need for leading experts in vascular medicine, interventional radiology, and surgery to address the critical human spaceflight research gaps highlighted by the National Aeronautics and Space Administration (NASA).

Methods: A scoping review following the Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) guidelines was conducted on literature published between 2000 and 2024. A well-defined search strategy was employed for keyword searches across multiple databases, including PubMed, Scopus, Cochrane, Embase, the NASA Life Science Data Archive, …

Society Of Vascular And Interventional Neurology (Svin) Stroke Interventional Laboratory Consensus (Silc) Criteria For Training Standards And Maintenance Of Certification In Neurointervention, Ossama Y. Mansour, Kaiz S. Asif, Roberta Novakovic-White, Boris Pabon, Santiago Ortega-Gutierrez, Atilla Ozcan Ozdemar, Alicia Castonguay, Brijesh Mehta, Dileep R. Yavagal, Ameer E. Hassan

School of Medicine Publications

The global shortage of neurointerventionalists presents a challenge to timely stroke care, particularly in low‐ and middle‐income countries. The Society of Vascular and Interventional Neurology Stroke Interventional Laboratory Consensus criteria aim to standardize training and certification in neurointervention to address these disparities. This white paper reviews existing training standards in various regions, identifies gaps, and proposes a structured framework encompassing entry requirements, program structure, and certification processes. The Stroke Interventional Laboratory Consensus criteria further outline requirements for training centers and program directors. By establishing global standards, the Stroke Interventional Laboratory Consensus criteria seek to improve patient outcomes and expand access …

High-Frequency And Conventional Ventilation In Very Low Birth Weight Neonates During Interfacility Transport, Trevor Cabrera, Janelle R. Noel-Macdonnell, Emily Mcnellis

Posters

Background: Very low birth weight (VLBW) neonates (≤1500 grams) transported across neonatal facilities often require advanced respiratory support, including high-frequency ventilation (HFV). While HFV use in this setting has increased, data evaluating its safety and efficacy in the VLBW population remain limited. We hypothesized that HFV will provide a safe modality to transport sick VLBW infants. Objectives: To present a comparative experience of safety and efficacy of HFV and CV in VLBW neonates during interfacility transport. Methods: We retrospectively reviewed neonates ≤1500g who received invasive ventilation during interfacility transport by our transport team between January 2019 and December 2022. HFV …

Discontinuous Or Attenuated Background, Absent Sleep Architecture, Absent Reactivity, And Presence Of Subclinical Seizures On Continuous Electroencephalography Are Associated With Unfavorable Short-Term Outcome Following Pediatric Severe Traumatic Brain Injury​, Xuexin Lu, Ara Hall, Yong Y. Han, Madeline Burdick, Avner Moeded, Isabella Boedefeld, Christian Kaufman, Jessica S. Wallisch

Presentations

BACKGROUND/PURPOSE: Accurate prognostication following pediatric severe traumatic brain injury (sTBI) remains challenging. Adult neuroprognostication guidelines recommend the use of prediction models that have not yet been validated in pediatric patients. We hypothesized certain continuous electroencephalography (cEEG) characteristics would be associated with unfavorable short-term outcome. METHODS: This was an IRB-approved, 7-year retrospective cohort study of children aged 1.5-18 years admitted to our PICU from 01/2018-12/2024 with sTBI and receiving cEEG monitoring per institutional standard management protocol. cEEG patterns (background, sleep architecture, reactivity, and electrographic seizure) during the first 12-hours of monitoring were analyzed for association with unfavorable short-term outcome at PICU …

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 …