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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 Sep 2025

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 Sep 2025

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 Sep 2025

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 Sep 2025

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 …


Determining Risk Factors And Rate Of Surgery After Collagenase Injections For Dupuytren Contracture, Ryan C. Cha, Juliet S. Chung, Sina Ramtin, Asif M. Ilyas Sep 2025

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 …


Prenatal Genetic Consultation And Testing, Sarah Araji, Lauren Westerfield, Roni Zemet, Ignatia B Van Den Veyver Sep 2025

Prenatal Genetic Consultation And Testing, Sarah Araji, Lauren Westerfield, Roni Zemet, Ignatia B Van Den Veyver

Duncan NRI Faculty and Staff Publications

The evolution of prenatal genetic testing has transformed prenatal diagnosis into a more precise and individualized approach. Advanced tools such as chromosomal microarray analysis and exome sequencing have enabled the prenatal diagnosis of more genetic conditions, including anomalies and disorders eligible for fetal therapy. When in utero therapy is considered, accurate genetic diagnosis is essential for guiding providers' and patients' decisions regarding management and outcomes. This chapter reviews available prenatal genetic screens and tests, their indications, and counseling strategies. It also explores genetic abnormalities associated with fetal structural anomalies and their implications for decision-making in fetal interventions.


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 Sep 2025

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 …


Eular/Acr Classification Criteria For Paediatric Chronic Nonbacterial Osteomyelitis (Cno)., Yongdong Zhao, Melissa S. Oliver, Anja Schnabel, Eveline Y. Wu, Zhaoyi Wang, Achille Marino, Cassyanne L. Aguiar, Jonathan D. Akikusa, Ummusen Kaya Akca, Beverley Almeida, Simone Appenzeller, Erin Balay-Dustrude, Ozge Basaran, Matthew L. Basiaga, Yelda Bilginer, David A. Cabral, Martina Capponi, Nathan Donaldson, Bugra Han Egeli, Emily Fox, Antonella Insalaco, Ramesh S. Iyer, Annette F. Jansson, Inna Kostik, Mikhail Kostik, Leonard K. Kovalick, Katia Tomie Kozu, Sivia K. Lapidus, Tzielan C. Lee, Aleksander Lenert, Kamran Mahmood, Edoardo Marrani, Doaa Mosad Mosa, Ian Muse, Alexander Mushkin, Katherine D. Nowicki, Farzana Nuruzzaman, Karen Onel, Manuela Pardeo, Trang Sophia Pham, Lauren Potts, Athimalaipet V. Ramanan, Angelo Ravelli, Nathan D. Rogers, Andrew W. Grim, Micol Romano, Natalie Rosenwasser, Takashi Shawn Sato, Gabriele Simonini, Jennifer B. Soep, Sara M. Stern, Timmy Strauss, Angela Taneja Kohli, Alexander C. Theos, Lori B. Tucker, Leslie F. Vogel, Shima Yasin, Stephen C. Wong, Katerina Bouchalova, Alison M. Hendry, Kevin C. Cain, Hermann J. Girschick, Fatma Dedeoglu, Christian M. Hedrich, Ronald M. Laxer, Polly J. Ferguson, Raymond Naden, Seza Ozen Sep 2025

Eular/Acr Classification Criteria For Paediatric Chronic Nonbacterial Osteomyelitis (Cno)., Yongdong Zhao, Melissa S. Oliver, Anja Schnabel, Eveline Y. Wu, Zhaoyi Wang, Achille Marino, Cassyanne L. Aguiar, Jonathan D. Akikusa, Ummusen Kaya Akca, Beverley Almeida, Simone Appenzeller, Erin Balay-Dustrude, Ozge Basaran, Matthew L. Basiaga, Yelda Bilginer, David A. Cabral, Martina Capponi, Nathan Donaldson, Bugra Han Egeli, Emily Fox, Antonella Insalaco, Ramesh S. Iyer, Annette F. Jansson, Inna Kostik, Mikhail Kostik, Leonard K. Kovalick, Katia Tomie Kozu, Sivia K. Lapidus, Tzielan C. Lee, Aleksander Lenert, Kamran Mahmood, Edoardo Marrani, Doaa Mosad Mosa, Ian Muse, Alexander Mushkin, Katherine D. Nowicki, Farzana Nuruzzaman, Karen Onel, Manuela Pardeo, Trang Sophia Pham, Lauren Potts, Athimalaipet V. Ramanan, Angelo Ravelli, Nathan D. Rogers, Andrew W. Grim, Micol Romano, Natalie Rosenwasser, Takashi Shawn Sato, Gabriele Simonini, Jennifer B. Soep, Sara M. Stern, Timmy Strauss, Angela Taneja Kohli, Alexander C. Theos, Lori B. Tucker, Leslie F. Vogel, Shima Yasin, Stephen C. Wong, Katerina Bouchalova, Alison M. Hendry, Kevin C. Cain, Hermann J. Girschick, Fatma Dedeoglu, Christian M. Hedrich, Ronald M. Laxer, Polly J. Ferguson, Raymond Naden, Seza Ozen

Manuscripts, Articles, Book Chapters and Other Papers

OBJECTIVES: To develop and validate classification criteria for paediatric chronic nonbacterial osteomyelitis (CNO) jointly supported by the European Alliance of Associations for Rheumatology (EULAR) and the American College of Rheumatology (ACR).

METHODS: This international initiative had 4 phases: (1) candidate items were proposed in a survey of paediatric rheumatologists, (2) criteria definition and reduction by Delphi and nominal group technique exercises, (3) criteria weighting using multicriteria decision analysis, and (4) refinement of weights and threshold score in a development cohort of 441 patients and validation in another cohort of 514 patients.

RESULTS: The new EULAR/ACR classification criteria for CNO require …


Contemporary Characteristics And Outcomes Of Pediatric Oncology Patients Participating In Early Phase Clinical Trials., Avina Rami, Kira Bona, Suzanne Shusterman, Karen Wright, Andrew E. Place, Puja J. Umaretiya, Ketki Bhushan, Steven G. Dubois, Kevin Campbell Sep 2025

Contemporary Characteristics And Outcomes Of Pediatric Oncology Patients Participating In Early Phase Clinical Trials., Avina Rami, Kira Bona, Suzanne Shusterman, Karen Wright, Andrew E. Place, Puja J. Umaretiya, Ketki Bhushan, Steven G. Dubois, Kevin Campbell

Manuscripts, Articles, Book Chapters and Other Papers

BACKGROUND: Phase 1 or phase 1/2 trials are a first step in pediatric cancer drug development. Currently, there is a paucity of information regarding contemporary outcomes for pediatric patients enrolled in these trials. We describe characteristics and outcomes of patients enrolled in pediatric phase 1 clinical trials over a 9-year period at a single institution.

METHODS: We queried our clinical trials management system to generate a list of patients enrolled and treated on pediatric phase 1 or phase 1/2 trials from 2011 to 2019. We collected baseline demographics, clinical data, efficacy, and safety endpoints post-enrollment including: time to death, objective …


Association Between Chd And Cerebral Abscess: Insights From A National Database., Keats Ewing, Rohit Seath Loomba, Saul Flores, Enrique G. Villarreal, Juan S. Farias, Matthew Taylor Coghill Sep 2025

Association Between Chd And Cerebral Abscess: Insights From A National Database., Keats Ewing, Rohit Seath Loomba, Saul Flores, Enrique G. Villarreal, Juan S. Farias, Matthew Taylor Coghill

Manuscripts, Articles, Book Chapters and Other Papers

CHD has been historically associated with the development of cerebral abscess. This retrospective cohort study examines the association of CHD with the occurrence of cerebral abscess in an inpatient paediatric population. We analysed data from the Pediatric Health Information System database, an administrative database that captures data from participating children's hospitals in the United States. We included all patients admitted to participating paediatric ICUs between 2016 and 2021 for a total of 426,029 admissions. Including all admissions, 1,387 (0.3%) patients experienced a cerebral abscess, and of 80,927 (19%) patients with CHD, only 88 (0.1%) experienced a cerebral abscess (odds ratio …


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 Sep 2025

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 Sep 2025

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 Sep 2025

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 Sep 2025

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 Sep 2025

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 Sep 2025

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 Sep 2025

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 Sep 2025

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 …


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 Sep 2025

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 Sep 2025

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 …


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 Sep 2025

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 Sep 2025

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 …


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 Sep 2025

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 Sep 2025

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 Sep 2025

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 Sep 2025

Cerebral Palsy Screening, Children's Mercy Kansas City

Clinical Pathways

No abstract provided.


Fever In The Returned Traveler, Children's Mercy Kansas City Sep 2025

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

Clinical Pathways

No abstract provided.


Antibiotic Stewardship In Pediatric Head And Neck Surgery, Mary Grace Robichaux, Zhide Fang, Jill N. D'Souza Sep 2025

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 Sep 2025

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 Sep 2025

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). …