Digital Commons Network^™

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 …

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 …

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 …

Coenzyme Q Headgroup Intermediates Can Ameliorate A Mitochondrial Encephalopathy, Guangbin Shi, Claire Miller, Sota Kuno, Alejandro G Rey Hipolito, Salsabiel El Nagar, Giulietta M Riboldi, Megan Korn, Wyatt C Tran, Zixuan Wang, Lia Ficaro, Tao Lin, Quentin Spillier, Begoña Gamallo-Lana, Drew R Jones, Matija Snuderl, Soomin C Song, Adam C Mar, Alexandra L Joyner, Roy V Sillitoe, Robert S Banh, Michael E Pacold

Duncan NRI Faculty and Staff Publications

Decreased brain levels of coenzyme Q10 (CoQ10), an endogenously synthesized lipophilic antioxidant1,2, underpin encephalopathy in primary CoQ10 deficiencies3,4 and are associated with common neurodegenerative diseases and the ageing process5,6. CoQ10 supplementation does not increase CoQ10 pools in the brain or in other tissues. The recent discovery of the mammalian CoQ10 headgroup synthesis pathway, in which 4-hydroxyphenylpyruvate dioxygenase-like protein (HPDL) makes 4-hydroxymandelate (4-HMA) to synthesize the CoQ10 headgroup precursor 4-hydroxybenzoate (4-HB)7, offers an opportunity to pharmacologically restore CoQ10 synthesis and mechanistically treat CoQ10 deficiencies. To test whether 4-HMA …

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 …

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 …

Antibiotic Stewardship In Pediatric Head And Neck Surgery, Mary Grace Robichaux, Zhide Fang, Jill N. D'Souza

School of Medicine Faculty Publications

OBJECTIVE: This study seeks to determine the rate of postoperative surgical site infections (SSI) among clean head and neck surgeries and review perioperative antibiotic administration practices. STUDY DESIGN: Retrospective review. SETTING: Pediatric tertiary care institution in New Orleans over a ten-year period. METHODS: A retrospective review was undertaken to identify clean head and neck surgical procedures performed at Manning Family Children's between 2013 and 2023. EPIC SlicerDicer™ was used to identify patients between ages 0-18 who underwent clean head and neck surgeries. Each chart was reviewed for perioperative antibiotic administration and occurrence of postoperative SSI. Rates of SSI were compared …

Personalised Learning In Medical Education – A Futuristic Model For Individual Learning Styles, Sujatha Mahadevarao Premnath, Ashwin Chand Ravichandran, Sivaa Rajendran

Digital Journal of Clinical Medicine

Medical education is transitioning from the traditional teacher-centred to a student-centred model, and an approach that caters to the diverse needs of the learner is necessary to meet these needs. Personalised learning is one such strategy that offers learning content based on individual profiles, learning styles, pace, and competency gaps. Here, the individual student receives content based on their preference, where the content can be created by educators leveraging technology, an adaptive learning platform, and artificial intelligence. It provides an inclusive and efficient learning platform that helps in creating more efficient medical graduates. This article explores the concept of personalized …

Patients´ Characteristics And Six-Month Outcomes Of Patients With Atrial Fibrillation In Kenya: A Retrospective Observational Cohort Study From The National Cardiovascular Registry, Salim Abdallah, Jasmit Shah, Anders Barasa, Felix Barasa, Benard Gitura, Mzee Ngunga

Internal Medicine, East Africa

Introduction: atrial fibrillation is increasingly diagnosed in Kenya due to the persistence of rheumatic heart disease and the rising burden of cardiovascular risk factors. We aim to describe the baseline, clinical, treatment characteristics, and six-month outcomes of patients diagnosed with atrial fibrillation in Kenya.

Methods: a retrospective observational cohort study design was employed. Data were obtained from three Kenyan referral hospitals, including public and private institutions. Baseline and six-month data were collected. Depending on the type of variable, data were summarized descriptively.

Results: two hundred forty participants were enrolled, with a median age of 59.0 (IQR: 42.0-75.8). …

Left Bundle Area Pacing Outcomes Among Patients With Very Wide Qrs – Insights From An African Registry, Willy Mucyo, Mzee Ngunga, Miriam Msunza, Jeilan Mohamed, Marcus Ngantcha, Brian Vezi

Internal Medicine, East Africa

Background: Left Bundle Area Pacing (LBAP) is a promising alternative to conventional cardiac resynchronization therapy. There is a high prevalence of dilated cardiomyopathy in Africa, which is often associated with very wide QRS. However, data on LBAP outcomes in Africa are limited. Objective To evaluate the procedural and clinical outcomes of LBAP among African patients with very wide QRS durations.

Methods: The Multicenter African Cardiac Outcomes in Pacing (MACOP) registry enrolled 311 patients in Kenya and South Africa who underwent LBAP between 2021 and 2024. We evaluated procedural and clinical outcomes. Patients were stratified by baseline QRSd (normal …

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 …

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 …

Integrative Supportive Care Trial To Enhance Physical Activity In Malignant Pleural Effusion—Protocol For The Isc-Team/Ample-5 Randomised Controlled Trial, Bianca M. Iacopetta, Chloe Charlesworth, Emily Jeffery, Lauren J. Breen, Ai Ling Tan, Joanne Mcveigh, Kevin Murray, Rob U. Newton, Y. C. Gary Lee, Carolyn J. Peddle-Mcintyre

Research outputs 2022 to 2026

Background: Malignant pleural effusion (MPE) heralds advanced cancer with poor patient outcomes. High symptom burden of weight loss, fatigue, breathlessness, distress, and anxiety leaves many patients unable to participate in desired activities of daily life and is associated with poor outcomes. Freedom from symptoms and maintaining daily activities are the key wishes of patients and carers. For the best outcome, accessible services aimed at prevention and management of malnutrition, care of psychological well-being, and support for increasing physical activity are required. Methods: The Integrative Supportive Care Trial to Enhance physical Activity in Malignant pleural effusion (ISC-TEAM) study is a two-armed, …

A Multi-Institutional Multi-Methods Analysis Of Jeopardy Systems In Academic Hospital Medicine, Kirsten N Kangelaris, Angela Keniston, Andrew D Auerbach, Gregory Bowling, Marisha Burden, Shradha A Kulkarni, Luci K Leykum, Anne S Linker, Matthew Sakumoto, Jeffrey Schnipper, Gopi Astik

Faculty, Staff and Students Publications

Background: Hospital medicine programs use backup ("jeopardy") systems to cover unexpected staffing gaps, but little is known about their structures or optimal practices.

Objectives: To describe jeopardy structures, assess clinician perceptions, and identify potential approaches across a broad sample of hospital medicine groups.

Methods: This multi-methods study, conducted within a national hospitalist consortium, used virtual focus groups and an email survey to (1) describe the presence and structure of jeopardy systems and (2) explore features perceived as fair, equitable, and tolerable. Rapid qualitative analysis identified major themes, while descriptive methods analyzed survey data.

Results: Twenty-five individuals participated in focus groups, …

Patient-Centered Management Of Heavy Menstrual Bleeding While On Anticoagulation: A Survey Study, Benjamin Barnett, Rushad Patell, Dana Angelini, Leben Tefera, Jordan K Schaefer, Ang Li, Alejandra Gutierrez Bernal, Shruti Chaturvedi, Anjlee Mahajan, Leslie Lake, Jori May, Anna L Parks

Faculty, Staff and Students Publications

Background: Nearly three-quarters of women experience heavy menstrual bleeding (HMB) during anticoagulation treatment for venous thromboembolism (VTE). HMB can lead to medical interventions, impact school or work and diminish quality of life (QOL). While there are several management options for HMB in patients with VTE, we lack information on how patients approach HMB treatment decisions.

Objectives: We examined patients' experience with, perceptions of, and preferences for treatment of HMB while on anticoagulation.

Methods: Clinicians and patient advocates developed a web-based survey that was distributed via patient advocacy organizations and social media between May and June 2024, targeting participants 18 years …

Optical Coherence Tomography Enables The Depth-Resolved Measurement Of Cilia Beat Frequency In Ex Vivo Human Fallopian Tubes, Dilara J Long, Tian Xia, Photini F Rice, Deirdre M Scully, Makayla Johnson, Ryan Mistifer, Andrea Aguirre, John M Heusinkveld, Irina V Larina, Jennifer K Barton

Faculty, Staff and Students Publications

Objectives: The movement of cilia in the fallopian tubes (FTs) facilitates important processes involved in fertility, and abnormalities in cilia function are linked with diseases including endometriosis and pelvic inflammatory disease. For the first time, we demonstrate the use of optical coherence tomography (OCT) to create depth-resolved mapping of motile cilia locations and quantify cilia beat frequency (CBF) in human FT samples ex vivo.

Methods: Segments of the FT ampulla were acquired from five patients following salpingectomy under an IRB approved protocol. The samples were longitudinally opened to expose the luminal surface for imaging. A sequence of at least 500 …

Current Controversies In Prenatal Diagnosis 2: Conventional Postmortem Examination Remains The Gold Standard For The Anatomical Examination Of Fetal Loss, J Ciaran Hutchinson, Lorraine Potocki, Ignatia B Van Den Veyver

Duncan NRI Faculty and Staff Publications

A comprehensive postmortem examination is an essential component of a work-up after stillbirth. Its findings can support accurate counseling of parents about causes and risk of recurrence. It also supports providers' decisions about most appropriate testing and management plans for future pregnancy to prevent recurrence. Informing parents about fetal autopsy and obtaining their consent is challenging, and conducting a fetal autopsy requires expertise that is, not universally available. Newer non-invasive or minimally invasive methods such as postmortem MRI and targeted biopsies can replace or supplement autopsies, but one must recognize that expertise in these methods is likewise not broadly available. …

The Effect Of Tert Promoter Mutation On Predicting Meningioma Outcomes: A Multi-Institutional Cohort Analysis, Karenna J Groff, Ruchit V Patel, Yang Feng, Hia S Ghosh, Miguel A Millares Chavez, Joseph O'Brien, William C Chen, Vijay Nitturi, Akshay V Save, Mark W Youngblood, Craig M Horbinski, James P Chandler, Felix Ehret, Chloe Gui, Justin Z Wang, Kristen Park, Sonia Ajmera, Marc Rosenblum, Abigail K Suwala, Catena Kresbach, Christopher W Mount, Ulrich Schüller, Sandro Santagata, Felix Sahm, Tejus A Bale, Christina Jackson, Timothy E Richardson, Chunyu Cai, Farshad Nassiri, Gelareh Zadeh, David Kaul, David Capper, Stephen T Magill, John G Golfinos, Chandra Sen, Akash J Patel, David R Raleigh, Jennifer Moliterno, Donato Pacione, Matija Snuderl, Wenya Linda Bi

Duncan NRI Faculty and Staff Publications

Background: Molecular aberrations have been incorporated into tumour classification guidelines of meningioma. TERT-promoter (TERTp) mutation is associated with worse prognosis and is designated a WHO grade 3 biomarker. However, it remains unclear whether TERTp mutation is context-dependent, with other co-occurring genetic alterations potentially driving its association with prognosis. We sought to characterise the role of TERTp mutation in meningioma and guide TERTp sequencing.

Methods: We identified 1492 patients of all ages who had previously received surgery for meningioma across 14 medical centres in the USA, Canada, and Germany. Patients were eligible if they had post-surgical clinical or radiographical assessment of …

Diagnostic Yield Of Exome Sequencing For Pregnancies With And Without Fetal Anomalies And For Stillbirth, Roni Zemet, Christian M Parobek, April D Adams, Mohamad Ali Maktabi, Lena Shay, Linyan Meng, Pengfei Liu, Hongzheng Dai, Fan Xia, Christine Eng, Ignatia B Van Den Veyver, Liesbeth Vossaert

Duncan NRI Faculty and Staff Publications

Objective: Exome sequencing (ES) benefits the genetic work-up for fetuses with structural anomalies, but data on its utility for fetuses without anomalies and stillbirths is more limited. We report our experience with prenatal ES for all three indications.

Method: We retrospectively reviewed results from 344 trio-ES performed for fetuses with structural anomalies (N = 262), stillbirths (N = 39), and fetuses without anomalies (N = 43), many of which had a relevant family history. We classified pathogenic variants (P), likely pathogenic variants (LP), or variants of uncertain significance (VUS) favoring pathogenicity in a gene consistent with the fetal phenotype as …

Opioid Withdrawal Treatment: Buprenorphine/Naloxone (Suboxone), Children's Mercy Kansas City

Clinical Pathways

No abstract provided.

Knowledge, Attitude And Practice Of Artificial Intelligence Among Healthcare Professionals: An Online Cross-Sectional Survey, Nikhil R, Divya K L, Mahabaleshwar Mamadapur, Harshwardhan S Patil, Shashirekha B, Hema Sameera Pinnam, Purna Bansal

Digital Journal of Clinical Medicine

Background: Deep learning-powered Artificial Intelligence-driven assistance offers enormous potential to improve healthcare by facilitating administrative work, diagnosis, and the treatment of chronic diseases. The gap between clinical values and the day-to-day realities of primary care practice might widen if AI is not successfully incorporated.

Methods: A cross-sectional design was used to evaluate healthcare professionals' perceptions and understanding of AI within a clinical setting. The study was conducted among 456 Health care Workers from May to November 2024.

Results: Among 456 participants, 55.7% were MBBS students/interns, and 37.9% were postgraduates/professionals. More than 50% supported AI integration, and 62.3% of MBBS …

Cardiogenic Shock With Acute Myocardial Infarction Among Older Adults In The United States, Taha Mansoor, Ali Bin Jabbar, Mahmoud Ismayl, Dylan Yu, Kartik Gupta, Sachin Parikh, Austin Brubaker, Abdul Minhas, Dmitry Abramov, Salim S. Virani

Population Health, East Africa

Background: Characteristics and outcomes associated with cardiogenic shock (CS) with acute myocardial infarction (AMI) in older patients have not been well characterized.

Objectives: The purpose of this study was to investigate characteristics and outcomes of older patients admitted with CS with AMI.

Methods: We used the National Inpatient Sample database to evaluate clinical characteristics of hospitalizations, clinical outcomes, and health care utilization of hospitalizations of older patients ≥80 years with CS and AMI from 2003 to 2021. We also compared data from older patients with a reference relatively younger patient population (18-79 years).

Results: During the study period, …

Mechanisms Underlying Treatment-Resistant Depression: Exploring Sex-Based Biological Differences, Francisco E R Da Silva, Atakan Yucel, Antonio P M Menezes, Ana C Ruiz, Marcela C Carbajal Tamez, Tatiana Barichello, Giselli Scaini, Joao Quevedo

Faculty, Staff and Student Publications

Treatment-resistant depression (TRD) represents a severe and complex subtype of major depressive disorder (MDD), affecting approximately 30% of patients who fail to respond adequately to multiple standard antidepressant therapies. While the pathophysiology of TRD remains incompletely understood, emerging evidence suggests that sex-based biological differences might influence its onset, progression, and treatment response. Women are disproportionately affected by depression and are more likely to experience residual symptoms and treatment resistance, potentially due to hormonal fluctuations, immune system differences, and variations in brain circuitry and neuroplasticity. This narrative explores the current literature on the mechanisms underlying TRD, with a particular emphasis on …

Mucinous Cystic Neoplasms Of The Pancreas And Liver Share A Similar Dna Methylation Profile With Mucinous Ovarian Tumors, Zoe Leoni, Teodor G Calina, Tobias Janik, Elena Grafenhorst, Eliane T Taube, Christopher Cm Neumann, Baoqing Chen, Elena I Braicu, Jalid Sehouli, Thomas Malinka, Wenzel Schöning, Johann Pratschke, George A Calin, David S Klimstra, Jamal K Benhamida, Irene Esposito, Markus Möbs, David Horst, Simon Schallenberg, David Capper, Mihnea P Dragomir

Faculty, Staff and Student Publications

The origin of mucinous cystic neoplasms (MCNs) remains a major challenge in hepato-pancreato-biliary pathology. These cystic tumors are defined by their mucinous epithelium and ovarian-like stroma, with an estimated 10% risk of progression to invasive carcinoma. The origin of the ovarian-like stroma remains a subject of debate. In this study, we conducted immunohistochemical profiling, targeted DNA sequencing, and genome-wide DNA methylation analysis on a cohort of 15 pancreatic MCNs (MCN-P) and six hepatic MCNs (MCN-L). Using immunohistochemistry and targeted DNA sequencing, we unequivocally established the diagnosis of MCN. Unsupervised DNA methylation profile analysis of reference classes of pancreatic neoplasms (11 …

Rna-Binding Proteins Mediate The Maturation Of Chromatin Topology During Differentiation, Bondita Dehingia, Małgorzata Milewska-Puchała, Marcin Janowski, Mahmoud-Reza Rafiee, Misbah Abbas, Aleksandra Piotrowska, Jan Senge, Piotr Blaut, Dietrich Walsh, Jacqueline Severino, Debadeep Chaudhury, Sajjad Iqbal, Rogelio Montiel-Manriquez, Sylwia Jankowska, Peyman Zare, Wolfgang Huber, Jianliang Xu, Rafael Casellas, Timo Zimmermann, Paweł Dłotko, Jeroen Krijgsveld, Aleksandra Pękowska

Faculty, Staff and Student Publications

Topologically associating domains (TADs) and chromatin architectural loops impact promoter-enhancer interactions, with CCCTC-binding factor (CTCF) defining TAD borders and loop anchors. TAD boundaries and loops progressively strengthen upon embryonic stem (ES) cell differentiation, underscoring the importance of chromatin topology in ontogeny. However, the mechanisms driving this process remain unclear. Here we show a widespread increase in CTCF-RNA-binding protein (RBP) interactions upon ES to neural stem (NS) cell differentiation. While dispensable in ES cells, RBPs reinforce CTCF-anchored chromatin topology in NS cells. We identify Pantr1, a non-coding RNA, as a key facilitator of CTCF-RBP interactions, promoting chromatin maturation. Using acute CTCF …