Open Access. Powered by Scholars. Published by Universities.®

Digital Commons Network

Open Access. Powered by Scholars. Published by Universities.®

Medical Specialties

Institution
Keyword
Publication Year
Publication
Publication Type
File Type

Articles 91 - 120 of 25851

Full-Text Articles in Entire DC Network

The Role Of Mitochondria In The Pathogenesis Of Parkinson’S Disease, Oyinkansola Mudasiru, Vivian Etugbo, Bhuvana Lakkasetter, Claudia Biguetti, Reginald Adiele Jul 2026

The Role Of Mitochondria In The Pathogenesis Of Parkinson’S Disease, Oyinkansola Mudasiru, Vivian Etugbo, Bhuvana Lakkasetter, Claudia Biguetti, Reginald Adiele

School of Podiatric Medicine - Student Research

Introduction: Parkinson’s disease (PD) is a progressive neurodegenerative disorder characterized by the degeneration of the dopaminergic neurons of the substantia nigra that leads to motor and non-motor dysfunctions. Emerging evidence highlights mitochondrial dysfunction as a key factor in PD pathogenesis. This project aims to investigate the pathophysiology of PD, highlighting the involvement of oxidative stress, and examining current and emerging therapeutic approaches aimed at restoring mitochondrial function.

Methodology: A systematic literature review was conducted using PubMed and Google Scholar within the 2004-2024 date range. Keywords included “Parkinson’s disease”, “mitochondrial dysfunction", “oxidative stress”, and neurodegeneration”. Data was extracted regarding …


Dosimetric Impact Of Eclipse’S Entrance Avoidance Tool On Salivary Gland Sparing In Head And Neck Vmat Plans, Shannon Diederichs Jul 2026

Dosimetric Impact Of Eclipse’S Entrance Avoidance Tool On Salivary Gland Sparing In Head And Neck Vmat Plans, Shannon Diederichs

Masters Projects

Medical dosimetry is constantly evolving as new techniques emerge to improve plan quality. The Eclipse treatment planning system (TPS) is equipped with the entrance and exit dose avoidance tool commonly used to prevent beam interaction with implanted metals or steer the beam away from anatomical regions. Current literature shows this tool has not been thoroughly investigated for more fundamental applications such as routine organ at risk (OAR) sparing. Xerostomia remains a lasting side effect for head-and-neck cancer (HNC) patients after the salivary glands receive substantial radiation. This study takes a more detailed look at the tool’s effectiveness when applied to …


Intermembrane Coupling Between Bcl-Xl And The Ip3 Receptor Supports Local Ca2+ Transfer At Er-Mitochondrial Contacts, Arijita Ghosh, David Weaver, Chi Li, György Hajnóczky Jul 2026

Intermembrane Coupling Between Bcl-Xl And The Ip3 Receptor Supports Local Ca2+ Transfer At Er-Mitochondrial Contacts, Arijita Ghosh, David Weaver, Chi Li, György Hajnóczky

Department of Pathology, Anatomy, and Cell Biology Faculty Papers

Bcl-xL, an anti-apoptotic Bcl-2 family protein, engages laterally with Bak/Bax in the outer mitochondrial membrane (OMM) to inhibit apoptosis and interacts with the IP3 receptor Ca2+ channels (IP3Rs) in the endoplasmic reticulum (ER) membrane to control Ca2+ release. It is unknown if OMM-localized Bcl-xL can also interact in trans with IP3Rs at ER-mitochondrial contacts to form a tethering complex that supports IP3R-mediated local Ca2+ transfer from ER to mitochondria. We establish that IP3R-mitochondria Ca2+ signal propagation depends on Bcl-xL. By targeting Bcl-xL specifically to different subcellular compartments, we find that OMM-localized Bcl-xL increases the efficacy …


"It Doesn't Matter Where Ocd Comes From," Or Does It?, Caitlin M Pinciotti, Ryan J Mccarty, Gabriella T Ponzini Jul 2026

"It Doesn't Matter Where Ocd Comes From," Or Does It?, Caitlin M Pinciotti, Ryan J Mccarty, Gabriella T Ponzini

Faculty, Staff and Students Publications

Purpose of review: This review critically evaluates the claim that etiology is not relevant to cognitive behavioral therapy (CBT) for obsessive-compulsive disorder (OCD). Research on the clinical presentation and treatment outcomes associated with traumatic/stressor and biological etiologies is presented.

Recent findings: The extant literature demonstrates varying clinical utility across the reviewed etiologies. Traumatic/stressor etiologies show the most consistent and robust evidence of clinical utility, demonstrating compelling associations with clinical presentation and treatment outcomes, while also being amenable to existing evidence-based approaches. Medical conditions (e.g., Pediatric Acute onset Neuropsychiatric Syndrome) and neurobiological factors also demonstrate considerable associations with OCD presentation, yet …


Genetic Associations With Pulmonary Embolism Among Those With A Deep Vein Thrombosis: The International Network Against Venous Thrombosis Consortium, Susana Lozano-Esparza, Gabrielle E Shakt, Jennifer A Brody, Angel Martinez-Perez, Matthew P Conomos, Marine Germain, Katharine R Clapham, Maris Teder-Laving, Astrid Van Hylckama Vlieg, Anni Kauko, Florian Thibord, Ohanna C L Bezerra, Girish N Nadkarni, Gaëlle Munsch, Therese Haugdahl Nøst, Ellen L Goode, Yuekai Ji, Daniel I Chasman, Alexander P Reiner, Constance Turman, Kerri L Wiggins, Colleen M Sitlani, Juan Carlos Souto, Pamela L Lutsey, Tiffany Bellomo, Estonian Biobank, Million Veteran Program, Ruifang Li-Gao, Aleksi Kristian Winstén, Ming-Huei Chen, Ron Do, Lénaick Gourhant, Kristian Hveem, Sebastian M Armasu, Noémie Saut, Nathan Pankratz, Franco Giulianini, Jeffrey Haessler, Mingyang Song, Robert Olaso, Eric Boerwinkle, Daniel Dochtermann, Jose Manuel Soria, Stephen S Rich, David Smadja, Satoshi Koyama, Frits R Rosendaal, Teemu Niiranen, France Gagnon, Ha My T Vy, Neil Zakai, Catherine Lemarie, Anne Heidi Skogholt, Jean-François Deleuze, James S Pankow, Paul M Ridker, Yuxi Liu, Kenneth M Rice, Saiju Pyarajan, Mary Cushman, Jospeh Emmerich, Bruce M Psaty, Pradeep Natarajan, Andrew D Johnson, Marc A Rodger, Pierre Suchon, Francis Couturaud, Pierre-Emmanuel Morange, Weihong Tang, Charles Kooperberg, Christopher Kabrhel, Maria Sabater-Lleal, David-Alexandre Trégouët, Alisa S Wolberg, Scott M Damrauer, Nicholas L Smith Jul 2026

Genetic Associations With Pulmonary Embolism Among Those With A Deep Vein Thrombosis: The International Network Against Venous Thrombosis Consortium, Susana Lozano-Esparza, Gabrielle E Shakt, Jennifer A Brody, Angel Martinez-Perez, Matthew P Conomos, Marine Germain, Katharine R Clapham, Maris Teder-Laving, Astrid Van Hylckama Vlieg, Anni Kauko, Florian Thibord, Ohanna C L Bezerra, Girish N Nadkarni, Gaëlle Munsch, Therese Haugdahl Nøst, Ellen L Goode, Yuekai Ji, Daniel I Chasman, Alexander P Reiner, Constance Turman, Kerri L Wiggins, Colleen M Sitlani, Juan Carlos Souto, Pamela L Lutsey, Tiffany Bellomo, Estonian Biobank, Million Veteran Program, Ruifang Li-Gao, Aleksi Kristian Winstén, Ming-Huei Chen, Ron Do, Lénaick Gourhant, Kristian Hveem, Sebastian M Armasu, Noémie Saut, Nathan Pankratz, Franco Giulianini, Jeffrey Haessler, Mingyang Song, Robert Olaso, Eric Boerwinkle, Daniel Dochtermann, Jose Manuel Soria, Stephen S Rich, David Smadja, Satoshi Koyama, Frits R Rosendaal, Teemu Niiranen, France Gagnon, Ha My T Vy, Neil Zakai, Catherine Lemarie, Anne Heidi Skogholt, Jean-François Deleuze, James S Pankow, Paul M Ridker, Yuxi Liu, Kenneth M Rice, Saiju Pyarajan, Mary Cushman, Jospeh Emmerich, Bruce M Psaty, Pradeep Natarajan, Andrew D Johnson, Marc A Rodger, Pierre Suchon, Francis Couturaud, Pierre-Emmanuel Morange, Weihong Tang, Charles Kooperberg, Christopher Kabrhel, Maria Sabater-Lleal, David-Alexandre Trégouët, Alisa S Wolberg, Scott M Damrauer, Nicholas L Smith

Children’s Nutrition Research Center Staff Publications

Background: Venous thromboembolism (VTE) includes deep vein thrombosis (DVT) and pulmonary embolism (PE), the latter of which often originates from DVT and can be fatal.

Objectives: The aim of this study was to identify causal genetic factors that alter risk of PE among those with a presumed DVT.

Methods: Using a case-only design of VTE, we conducted meta-analyses of genome-wide association studies (GWASs) in the International Network Against Venous Thrombosis Consortium. Among participants diagnosed with VTE, each study identified those who had a clinically reported PE, with or without a clinically reported DVT; those remaining had isolated DVT. Logistic regression …


The Biological Response Of Human Np Cells To Soluble Collagen Vi, Jonathan Dalton, Srikanth N. Divi, Yasmine Eichbaum, Panya Luksanapruksa, Mitchell K. Ng, Rachel Huang, Alan S. Hilibrand, Alex R. Vaccaro, Dessislava Z. Markova, Christopher K. Kepler Jul 2026

The Biological Response Of Human Np Cells To Soluble Collagen Vi, Jonathan Dalton, Srikanth N. Divi, Yasmine Eichbaum, Panya Luksanapruksa, Mitchell K. Ng, Rachel Huang, Alan S. Hilibrand, Alex R. Vaccaro, Dessislava Z. Markova, Christopher K. Kepler

Department of Orthopaedic Surgery Faculty Papers

Extracellular matrix (ECM) dysregulation plays a significant role in the development of intervertebral disc disease (IVDD). The ECM around the chondrocytes in the nucleus pulposus (NP) is unique in that it contains ColVI. While linked to chondrocyte proliferation in cartilage, ColVI's specific role in IVD degeneration is less clear. Our aim was to determine the expression of ColVI in NP cells from degenerative IVDs, along with the effects of soluble ColVI on NP cells. Thus, we compared the expression levels of ColVI in human degenerated IVD samples, along with the effect of soluble ColVI on primary human NP cells. A …


When Should You Worry About Pediatric Snoring?, Sarah Gubara, Samira Naime Jul 2026

When Should You Worry About Pediatric Snoring?, Sarah Gubara, Samira Naime

Pediatrics in Practice: A CME Podcast

My child snores — when is it a problem? Snoring and obstructive sleep apnea are the focus here. Samira Naime, MD, Pediatric Pulmonologist and Sleep Medicine Physician at Children's Mercy, explains how to spot worrying signs, when to try allergy treatment or nasal steroid and when to consider a sleep study. She also covers which labs allow outside ordering and when referral to sleep medicine is appropriate.

Click here to stream the podcast episode.


Neural-Immune-Cardiovascular Axis: From Mechanistic Crosstalk To Therapeutic Targets In Cardiovascular Disease, Junkang Cheng, Shuang Gao, Haowei Zhang, Wei Gao, Zeyuan Mei, Xiaoling Liu, Jocelyn Gao, Chenghu Guo, Guipeng An Jul 2026

Neural-Immune-Cardiovascular Axis: From Mechanistic Crosstalk To Therapeutic Targets In Cardiovascular Disease, Junkang Cheng, Shuang Gao, Haowei Zhang, Wei Gao, Zeyuan Mei, Xiaoling Liu, Jocelyn Gao, Chenghu Guo, Guipeng An

Student Papers, Posters & Projects

The neural-immune-cardiovascular axis represents an emerging and highly integrated physiological and pathophysiological concept, describing a complex bidirectional communication network between the nervous, immune, and vascular systems. This review systematically examines the pivotal role of this axis in maintaining cardiovascular homeostasis and in the pathogenesis of cardiovascular diseases. We first provide an overview of the fundamental signaling pathways between the components of this axis. Subsequently, we delve into the specific crosstalk mechanisms within the axis in the context of major cardiovascular conditions, including atherosclerosis, hypertension, and heart failure. A central focus is placed on critically evaluating the potential therapeutic targets and …


Rsv Can Infect The Human Nasal Epithelium Via The Basolateral Route And Shows Distinct Subgroup Infectivity And Basal Cell Tropism, Ashley Murray, Divya Nagaraj, Emily M Schultz, Gina Aloisio, Erin Nicholson, Sarah E Blutt, Vasanthi Avadhanula, Pedro A Piedra Jul 2026

Rsv Can Infect The Human Nasal Epithelium Via The Basolateral Route And Shows Distinct Subgroup Infectivity And Basal Cell Tropism, Ashley Murray, Divya Nagaraj, Emily M Schultz, Gina Aloisio, Erin Nicholson, Sarah E Blutt, Vasanthi Avadhanula, Pedro A Piedra

Faculty, Staff and Students Publications

Respiratory syncytial virus (RSV) causes millions of lower respiratory tract infections (LRTIs) in young children, older adults, and immunocompromised populations every year. RSV infection initiates in the upper respiratory tract and can progress to the lower airways, resulting in bronchiolitis, pneumonia, and even death. RSV primarily infects epithelial cells apically, but we hypothesized that basolateral exposure of the respiratory epithelium could provide an alternative mechanism of infection that contributes to LRTI development. Using a human nose organoid-air-liquid interface (HNO-ALI) model, we performed apical and basolateral inoculations with contemporaneous RSV strains (RSV/A/Ontario [RSV/A/ON] and RSV/B/Buenos Aires [RSV/B/BA]) representing the two RSV …


Recognizing Ibd In Kids: What Every Pediatrician Should Know, Mike Smith, Julie A. Bass Jul 2026

Recognizing Ibd In Kids: What Every Pediatrician Should Know, Mike Smith, Julie A. Bass

Pediatrics in Practice: A CME Podcast

This episode walks through how to identify inflammatory bowel disease in children, the key red flags that matter, and practical steps primary care providers can take before referral. It’s essential because earlier recognition of pediatric IBD can prevent growth problems, nutritional deficiencies, and serious complications. Guest: Julie Bass, DO, Medical Director of the Inflammatory Bowel Disease Program at Children’s Mercy and Professor of Pediatrics, offers clinical tips from years in pediatric gastroenterology. You’ll hear about stool testing like fecal calprotectin, basic blood work including CBC and CRP, growth monitoring, and when to consider colonoscopy or urgent referral for suspected Crohn’s …


Using Polygenic Risk Scores To Evaluate Definitions Of Self-Reported Sleep Phenotypes Across Cohorts, Annah B Wyss, Michael Brown, Xiang Li, Brian W Spitzer, Zhijie Huang, Heming Wang, Richa Saxena, Linda Gallo, Qibin Qi, Wassim Tarraf, Robert Kaplan, Melissa Lamar, Hector M González, Charles Decarli, Myriam Fornage, Jerome I Rotter, Stephen S Rich, Kent D Taylor, Xiuqing Guo, Alexis C Wood, Peter Y Liu, Susan R Heckbert, Chloé Sarnowski, Jan Bressler, Alanna C Morrison, Bing Yu, Pamela L Lutsey, Carmen R Isasi, Susan Redline, Tamar Sofer Jul 2026

Using Polygenic Risk Scores To Evaluate Definitions Of Self-Reported Sleep Phenotypes Across Cohorts, Annah B Wyss, Michael Brown, Xiang Li, Brian W Spitzer, Zhijie Huang, Heming Wang, Richa Saxena, Linda Gallo, Qibin Qi, Wassim Tarraf, Robert Kaplan, Melissa Lamar, Hector M González, Charles Decarli, Myriam Fornage, Jerome I Rotter, Stephen S Rich, Kent D Taylor, Xiuqing Guo, Alexis C Wood, Peter Y Liu, Susan R Heckbert, Chloé Sarnowski, Jan Bressler, Alanna C Morrison, Bing Yu, Pamela L Lutsey, Carmen R Isasi, Susan Redline, Tamar Sofer

Faculty, Staff and Students Publications

Study objectives: Since genome-wide association studies (GWAS) of sleep phenotypes have been conducted in differing populations and definitions of sleep phenotypes vary across studies, we investigated associations between several polygenic risk scores (PRSs) and potential sleep definitions among multiethnic cohorts.

Methods: Using data from four cohorts (HCHS/SOL, ARIC, MESA, BHS, N = 16 895), we considered multiple definitions of short and long sleep, insomnia, and excessive daytime sleepiness (EDS). PRSs were developed based on summary statistics from GWAS in European ancestry individuals from the UK Biobank (UKB) and from GWAS conducted in a multiethnic population from the Million Veteran Program …


Functional Divergence Of Capicua Isoforms Explains Differential Tissue Vulnerability In Neurological Disease, Hamin Lee, Esmeralda Villavicencio Gonzalez, Elias M Rivera, Mark A Durham, Ronald Richman, Elizabeth H-Y Chu, Kailey Xia, Hu Chen, Zhandong Liu, Surabi Veeraragavan, Binoy Shivanna, Huda Y Zoghbi Jul 2026

Functional Divergence Of Capicua Isoforms Explains Differential Tissue Vulnerability In Neurological Disease, Hamin Lee, Esmeralda Villavicencio Gonzalez, Elias M Rivera, Mark A Durham, Ronald Richman, Elizabeth H-Y Chu, Kailey Xia, Hu Chen, Zhandong Liu, Surabi Veeraragavan, Binoy Shivanna, Huda Y Zoghbi

Faculty, Staff and Students Publications

Many neurological diseases impact specific brain regions despite widespread expression of the disease-related protein. Spinocerebellar ataxia type 1 (SCA1) primarily affects the cerebellum, though Ataxin-1 (ATXN1) is widely expressed. We previously showed that intensified interaction between mutant ATXN1 and Capicua (CIC) drives SCA1 pathogenesis in the cerebellum, whereas ATXN1 loss augments amyloid β production in the hippocampus and cortex. CIC, however, forms a complex with ATXN1 and its paralog, Ataxin-1-like (ATXN1L), yet knockout of either yields completely different phenotypes. To determine whether this could be due to CIC having two isoforms, we generated mice bearing either the long (CIC-L) or …


Persistent Chemotherapy-Induced Peripheral Neuropathy As A Chronic Cancer Pain Syndrome: Mechanisms, Therapeutic Limitations, And Future Directions, Reed Firestone, Jamin Morrison Jul 2026

Persistent Chemotherapy-Induced Peripheral Neuropathy As A Chronic Cancer Pain Syndrome: Mechanisms, Therapeutic Limitations, And Future Directions, Reed Firestone, Jamin Morrison

Department of Medicine Faculty Papers

Background/Objectives: Chemotherapy-induced peripheral neuropathy (CIPN) is a common, dose-limiting complication of cancer therapy and a major contributor to chronic neuropathic pain among cancer survivors. Although traditionally managed as a treatment-related toxicity, persistent CIPN frequently persists long after chemotherapy completion and is increasingly recognized as a major survivorship and palliative care challenge. This review synthesizes current mechanistic, clinical, and translational evidence and reframes persistent CIPN as a chronic neuropathic cancer pain syndrome. Methods: A narrative review of peer-reviewed literature was conducted using PubMed/MEDLINE, Embase, and the Cochrane Library, supplemented by manual review of key references and clinical guidelines. Emphasis was placed …


Full Issue: Volume 4, Issue 1 - 2026 Jul 2026

Full Issue: Volume 4, Issue 1 - 2026

Bone Bulletin

i - Editors’ Note by Elijah Hoffman and Liam Gibbons

ii - Foreword by Dr. Alan Hilibrand

7 - Clinical Uncertainty in Digital Monitoring After Shoulder Arthroplasty by Abhi Pandey

10 - The Changing Value of Joint Arthroplasty Under the RVU System by Kiley Hamou

13 - SCALPEL TO ROBOT TO ALGORITHM: Robotics, Artificial Intelligence, and the Evolution of Spine Surgery by Mateja Stefanovic

18 - Suture-Free Nerve Repair in Upper-Extremity Surgery by Adam Gaughan

20 - The Impact of Wide-Awake Local Anesthesia No Tourniquet Surgery on Distal Radius Fracture Plating by Michael Carey

23 - Unicompartmental Versus Total Knee …


Biologic Adjuncts In Hand Surgery: Current Evidence, Limitations, And Clinical Implications, Joseph Kelly Jul 2026

Biologic Adjuncts In Hand Surgery: Current Evidence, Limitations, And Clinical Implications, Joseph Kelly

Bone Bulletin

Introduction Biologic therapies such as platelet-rich plasma (PRP) and mesenchymal stem cell (MSC) based treatments, have gained substantial attention across orthopaedics as agents that may enhance tissue healing and modulate inflammation.1,4 Their use has expanded in the management of degenerative joint disease, tendinopathies, and fracture nonunion across multiple subspecialties within the field.1,3,6 Despite the developing research base, prior hand-focused reviews have noted that orthobiologics in hand surgery remains an underdeveloped area, leaving limited guidance available to inform clinical decision making.1-2


Conceptual Frameworks, Evolving Technology, And Common Misconceptions: How Orthopedic Hand Surgeons Choose Fracture Fixation Technique, Sudesh Jaisi Jul 2026

Conceptual Frameworks, Evolving Technology, And Common Misconceptions: How Orthopedic Hand Surgeons Choose Fracture Fixation Technique, Sudesh Jaisi

Bone Bulletin

Fracture fixation is often taught as a binary decision between operative and nonoperative management, which fails to reflect the complexity of real-world clinical decision-making. This article analyzes fracture fixation through a conceptual, fracture personality-based framework incorporating biomechanics, fracture characteristics, patient-specific factors, and evolving implant technology. Clinical decision-making is best understood as a spectrum of interventions, where multiple fixation strategies may be technically appropriate but differ in invasiveness, stability, complication risk, and functional recovery. Across representative fracture types, including distal radius and olecranon injuries, management is driven by fracture stability, anticipated behavior under physiologic load, and patient functional demands rather than …


Suture-Free Nerve Repair In Upper-Extremity Surgery, Adam Gaughan Jul 2026

Suture-Free Nerve Repair In Upper-Extremity Surgery, Adam Gaughan

Bone Bulletin

Introduction

Peripheral nerves have a limited capacity to regenerate.1 Treating peripheral nerve injuries and the ensuing recovery of sensory and/or motor function are challenging for surgeons due to a number of variables that impact nerve recovery; including, the mechanism of nerve transection, the level or distance of injury relative to the target organ, patient age and comorbidities, and the repair technique employed. Most factors are not modifiable, but repair techniques are modifiable and can have a meaningful impact on outcomes. Nerve repair opt ions inc lude di r e ct end- to- end r epai r (neurorrhaphy), conduit-assisted repair, …


From Villi To Alveoli: Lung Involvement In Celiac Disease – A Narrative Review, Mateusz Marzec, Patrycja Cecha Jul 2026

From Villi To Alveoli: Lung Involvement In Celiac Disease – A Narrative Review, Mateusz Marzec, Patrycja Cecha

Journal of Community Hospital Internal Medicine Perspectives

Background:

Celiac disease (CD) is a chronic, immune-mediated enteropathy triggered by gluten that affects about 1% of the population and may present with extraintestinal manifestations. Pulmonary complications are considered rare and are poorly characterized. Lane-Hamilton syndrome is the best described lung manifestation, but data suggests a broader spectrum of respiratory involvement.

Methods:

We performed a narrative review with structured search strategy of PubMed and Embase (January 1, 1970 – December 1, 2025) using the terms celiac/coeliac and lung, pulmonary, respiratory, hemoptysis, hemosiderosis, alveolar hemorrhage, interstitial lung disease, alveolitis, bronchiectasis …


Less Frequent Versus More Frequent Cervical Examinations In Labor: A Systematic Review And Meta-Analysis, Alessandro Petrecca, Benedetta Bina, Chiara Tersigni, Tullio Ghi, Vincenzo Berghella Jul 2026

Less Frequent Versus More Frequent Cervical Examinations In Labor: A Systematic Review And Meta-Analysis, Alessandro Petrecca, Benedetta Bina, Chiara Tersigni, Tullio Ghi, Vincenzo Berghella

Department of Obstetrics and Gynecology Faculty Papers

BACKGROUND: Digital cervical examinations are central to intrapartum care, yet their optimal frequency remains uncertain and is largely based on consensus rather than high-quality evidence.

OBJECTIVES: To compare less frequent versus more frequent cervical examinations during labor in terms of obstetrical, maternal and neonatal outcomes.

SEARCH STRATEGY: We searched Medline, Cochrane Library, EMBASE, PubMed Central, Scopus and ClinicalTrials.gov from inception to August 2025, without language or geographic restrictions. The review was registered in PROSPERO (CRD420251033729).

SELECTION CRITERIA: Randomized controlled trials comparing different frequencies of cervical examinations in term singleton pregnancies during labor were included.

DATA COLLECTION AND ANALYSIS: Two reviewers …


Epilepsy-Associated Digenic Variants Affecting An Actin-Mitochondria-Glutamate Pathway Promote Seizure Susceptibility, Shenzhao Lu, Mengqi Ma, Shabab B Hannan, Mingxi Deng, Hu Chen, Zhijian Yu, Lindsey D Goodman, Haein Kim, Yun Zhao, Sandeep Kumar Dubey, Wen-Wen Lin, Xueyang Pan, Debdeep Dutta, Vishnu Anand Cuddapah, Jill A Rosenfeld, Xi Luo, Zhandong Liu, Joshua M Shulman, Hugo J Bellen Jul 2026

Epilepsy-Associated Digenic Variants Affecting An Actin-Mitochondria-Glutamate Pathway Promote Seizure Susceptibility, Shenzhao Lu, Mengqi Ma, Shabab B Hannan, Mingxi Deng, Hu Chen, Zhijian Yu, Lindsey D Goodman, Haein Kim, Yun Zhao, Sandeep Kumar Dubey, Wen-Wen Lin, Xueyang Pan, Debdeep Dutta, Vishnu Anand Cuddapah, Jill A Rosenfeld, Xi Luo, Zhandong Liu, Joshua M Shulman, Hugo J Bellen

Faculty, Staff and Students Publications

Epilepsy affects approximately 50 million people worldwide, yet more than half of individuals with a presumed genetic cause still lack a molecular diagnosis despite the identification of over 1,000 monogenic epilepsy genes. This diagnostic gap is unlikely to be resolved by improved variant detection alone, suggesting that variants affecting the same biological pathway may combine to cause disease. By studying epilepsy-associated actin regulatory genes, we identified a conserved "actin-mitochondria-glutamate (AMG) pathway". We demonstrate that reduced actin polymerization promotes DRP1-mediated mitochondrial fission, increases reactive oxygen species (ROS) levels, and enhances glutamatergic transmission, leading to seizures. The glial innate immune pathway, a …


Small Cell Lung Cancer In A Never-Smoking Patient: A Case Highlighting Diagnostic And Screening Gaps In Primary Care, Edward Hamilton, Alexandra She, Francis Jenney Jul 2026

Small Cell Lung Cancer In A Never-Smoking Patient: A Case Highlighting Diagnostic And Screening Gaps In Primary Care, Edward Hamilton, Alexandra She, Francis Jenney

The Journal of Integrated Primary Care

Small cell lung cancer (SCLC) is best known in relation to tobacco exposure and tends to be seen in advanced disease. Contemporary guidelines in lung cancer screening demonstrate a strong emphasis on smoking exposure, which may serve as a barrier to recognition in never-smokers who lack conventional risk factors. As a result, SCLC in never-smokers remains an important but underrecognized consideration in general and primary care settings. The current case involves a 65-year-old African American man who has never been a smoker but who presented with progressive thoracic pain, shortness of breath, and unintended weight loss, leading to the discovery …


A Systematic Literature Review Of Cvid Reveals Pervasive Detrimental Noninfectious Manifestations, Robert B Lindell, Samir U Sayed, Jose S Campos Duran, Sydney A Sheetz, Apoorva Babu, Montana S Knight, Andrea A Mauracher, Ceire A Hay, Peyton E Conrey, Julie C Fitzgerald, Nadir Yehya, Stephen T Famularo, Teresa Arroyo, Richard Tustin, Hossein Fazelinia, Edward M Behrens, David T Teachey, Lisa R Forbes Satter, Alexandra F Freeman, Jenna Re Bergerson, Steven M Holland, Jennifer W Leiding, Scott L Weiss, Mark W Hall, Deanne M Taylor, Rui Feng, E John Wherry, Nuala J Meyer, Sarah E Henrickson Jul 2026

A Systematic Literature Review Of Cvid Reveals Pervasive Detrimental Noninfectious Manifestations, Robert B Lindell, Samir U Sayed, Jose S Campos Duran, Sydney A Sheetz, Apoorva Babu, Montana S Knight, Andrea A Mauracher, Ceire A Hay, Peyton E Conrey, Julie C Fitzgerald, Nadir Yehya, Stephen T Famularo, Teresa Arroyo, Richard Tustin, Hossein Fazelinia, Edward M Behrens, David T Teachey, Lisa R Forbes Satter, Alexandra F Freeman, Jenna Re Bergerson, Steven M Holland, Jennifer W Leiding, Scott L Weiss, Mark W Hall, Deanne M Taylor, Rui Feng, E John Wherry, Nuala J Meyer, Sarah E Henrickson

Faculty, Staff and Students Publications

BACKGROUND

Sepsis is a leading cause of morbidity and mortality in critically ill children, yet heterogeneous immune responses complicate the development of targeted therapies and the host immune factors driving sepsis pathobiology remain unclear.

METHODS

We integrated deep immune phenotyping, plasma proteomics, single-cell transcriptomics, and phosphoflow cytometry in a prospective cohort of 88 critically ill children to elucidate the mechanisms underlying immune heterogeneity.

RESULTS

Unsupervised clustering of plasma cytokines identified 3 immunologic subgroups, including a high-severity group (“Group C”) characterized by hypercytokinemia driven by IL-6 and IFN-γ. Group C exhibited distinct alterations in immune cell frequency and activation, with a …


Dabrafenib-Induced Cutaneous Eruptions In A Patient With Langerhans Cell Histiocytosis, Jaanvi Mehta, Julianna Tolotta, Eleanor Matthews, Daniel Joffe, Safiyyah Bhatti, Lauren Banner, Jenna Mandel, Molly Wallace, Timothy G. Webster, Jason B. Lee, Neda Nikbakht Jul 2026

Dabrafenib-Induced Cutaneous Eruptions In A Patient With Langerhans Cell Histiocytosis, Jaanvi Mehta, Julianna Tolotta, Eleanor Matthews, Daniel Joffe, Safiyyah Bhatti, Lauren Banner, Jenna Mandel, Molly Wallace, Timothy G. Webster, Jason B. Lee, Neda Nikbakht

Department of Dermatology and Cutaneous Biology Faculty Papers

Langerhans cell histiocytosis (LCH) is a rare malignancy marked by clonal proliferation of Langerhans cells, with BRAF V600E mutations identified in over 50% of the cases. BRAF inhibitors (BRAFi), such as dabrafenib, have shown efficacy in treating BRAF V600E-mutant LCH. However, BRAFi therapy is associated with cutaneous adverse effects, including the development of new melanocytic nevi, verrucae, and keratinocyte carcinoma (KC). This case report describes a 78-year-old woman with BRAF V600E-mutant LCH who developed multiple dermatologic side effects following dabrafenib salvage therapy. Seven weeks into treatment, the patient presented with eruptive palmoplantar nevi, verrucae, and a basal cell carcinoma (BCC). …


Combining Menin And Mek Inhibition To Target Poor Prognosis Kmt2a-Rearranged Ras Pathway-Mutant Acute Myeloid Leukemia., Nastassja Scheidegger, Constanze Schneider, Gabriela Alexe, Yi-Cheng Wang, Todd A. Alonzo, Allen Basanthakumar, Wallace A. Bourgeois, Julia Dudkiewicz-Garbicz, Delan Khalid, Lucy A. Merickel, Jennifer A. Perry, Rhonda E. Ries, Silvi Salhotra, Audrey Taillon, Alan S. Gamis, Richard Aplenc, Marian H. Harris, Mark Wunderlich, Scott A. Armstrong, Jessica A. Pollard, Soheil Meshinchi, Yana Pikman, Kimberly Stegmaier Jul 2026

Combining Menin And Mek Inhibition To Target Poor Prognosis Kmt2a-Rearranged Ras Pathway-Mutant Acute Myeloid Leukemia., Nastassja Scheidegger, Constanze Schneider, Gabriela Alexe, Yi-Cheng Wang, Todd A. Alonzo, Allen Basanthakumar, Wallace A. Bourgeois, Julia Dudkiewicz-Garbicz, Delan Khalid, Lucy A. Merickel, Jennifer A. Perry, Rhonda E. Ries, Silvi Salhotra, Audrey Taillon, Alan S. Gamis, Richard Aplenc, Marian H. Harris, Mark Wunderlich, Scott A. Armstrong, Jessica A. Pollard, Soheil Meshinchi, Yana Pikman, Kimberly Stegmaier

Manuscripts, Articles, Book Chapters and Other Papers

KMT2A-rearranged (KMT2A-r) acute leukemias are especially prevalent in the pediatric population. KMT2A-fusion proteins drive leukemogenic gene expression through an interaction with a chromatin complex that includes the scaffold protein menin, giving rise to aggressive acute leukemias. RAS pathway mutations are also common in pediatric leukemia. In a cohort of 1750 patients enrolled on Children's Oncology Group (COG) trials, we identified RAS pathway mutations in 43% of acute myeloid leukemia (AML) cases. The presence of RAS pathway mutations in KMT2A-r AML was associated with a lower complete remission rate, poor event-free survival and overall survival (OS), and early relapses. Given the …


Slc Transporter-Mediated Functional Imaging In Cancer Diagnosis, Lumeng Zhang, Jun He Jul 2026

Slc Transporter-Mediated Functional Imaging In Cancer Diagnosis, Lumeng Zhang, Jun He

Department of Pathology, Anatomy, and Cell Biology Faculty Papers

Functional imaging has become an important approach for evaluating tumor physiology in vivo beyond morphologic assessment. Radiotracers used for cancer imaging are designed to mimic endogenous substrates or substrate analogues, and their accumulation can depend on membrane transport, intracellular metabolism, and clearance from normal tissues. Specifically, SLC transporters contribute to tracer uptake and signal formation, linking transporter activity with measurable imaging signals in cancer. While [18F]FDG PET/CT remains the most widely used example of transporter-associated metabolic imaging, SLC transporter-mediated imaging strategies have been developed to assess amino acid transport, sodium-dependent glucose uptake, redox metabolism, lactate exchange, nucleoside metabolism, choline metabolism, …


Depression And Anxiety In Pulmonary Hypertension Associated With Congenital Heart Disease: Pathophysiology And Clinical Implications Of The Heart–Brain Axis, Nicodemus N. Triatmojo, Valerinna Y.S. Putri Jul 2026

Depression And Anxiety In Pulmonary Hypertension Associated With Congenital Heart Disease: Pathophysiology And Clinical Implications Of The Heart–Brain Axis, Nicodemus N. Triatmojo, Valerinna Y.S. Putri

Journal of the Saudi Heart Association

Pulmonary hypertension associated with congenital heart disease or PH-CHD is an increasingly prevalent disorder in modern cardiology. It is characterized by progressive pulmonary vascular remodeling, chronic right ventricular (RV) pressure overload, and abnormal cardiopulmonary hemodynamic. Due to advances in congenital cardiology and treatments for pulmonary hypertension, survival rates have increased. As a result, the focus has switched to long-term functional status and quality of life. Depression and anxiety are currently recognized as prevalent and clinically significant manifestations in PH-CHD; nonetheless, they remain underdiagnosed and undertreated within cardiovascular care frameworks.

More study shows the disease's severity or symptom count cannot explain …


Feasibility Study Of An Artificial Intelligence Chatbot-Powered Cognitive-Behavioral Lifestyle Modification Program, Evans Forman, Charlotte Hagerman, Asher Hong, Zhuoran Huang, Hannah Mccausland, Jasmine Sun, Lauren Taylor, Meghan Butryn, Preetha Chatterjee, Ramtin Ehsani, Nawal Syed Jul 2026

Feasibility Study Of An Artificial Intelligence Chatbot-Powered Cognitive-Behavioral Lifestyle Modification Program, Evans Forman, Charlotte Hagerman, Asher Hong, Zhuoran Huang, Hannah Mccausland, Jasmine Sun, Lauren Taylor, Meghan Butryn, Preetha Chatterjee, Ramtin Ehsani, Nawal Syed

Department of Family & Community Medicine Faculty Papers

Background: Approximately 2 billion adults seek lifestyle modification to improve their health and well-being. However, because of cost and access barriers, only a tiny fraction receive gold-standard lifestyle modification programs led by trained coaches. Digital programs without human coaches are more disseminable but have limited efficacy. Recent advances in large language model (LLM) AI chatbots have the potential to revolutionize digital programs by emulating human coaches, offering a safe, low-cost, and scalable lifestyle modification intervention. Yet, no studies have developed and tested such a program. Purpose: This study aims to evaluate the feasibility, safety, and user engagement of a new …


A Phase Ii Trial Of Defactinib Combined With Avutometinib In Patients With Metastatic Uveal Melanoma, Rino S. Seedor, Mizue Terai, Sergei A. Koshkin, Andrew E. Aplin, Marlana Orloff, Erin Sharpe-Mills, Madeleine Naccarato, Aurora Mills, Alfredo A. Molinolo, J. Silvio Gutkind, Takami Sato Jul 2026

A Phase Ii Trial Of Defactinib Combined With Avutometinib In Patients With Metastatic Uveal Melanoma, Rino S. Seedor, Mizue Terai, Sergei A. Koshkin, Andrew E. Aplin, Marlana Orloff, Erin Sharpe-Mills, Madeleine Naccarato, Aurora Mills, Alfredo A. Molinolo, J. Silvio Gutkind, Takami Sato

Kimmel Cancer Center Faculty Papers

Background: Treatment options are limited, and outcomes remain poor for patients with metastatic uveal melanoma (MUM). We conducted an investigator-initiated, prospective, single-arm, single-institution, phase II study evaluating the combination of an FAK inhibitor (defactinib) with a RAF/MEK inhibitor (avutometinib) for the treatment of MUM. Methods: From February 2021 through January 2023, 12 patients with MUM were treated with the combination of defactinib and avutometinib. Defactinib was given 200 mg twice daily, and avutometinib was given 3.2 mg twice a week. Both drugs were given for 3 weeks on and 1 week off (28-day cycle). Disease control rate was the primary …


Specific Carbohydrate Diet Versus Mediterranean Diet In Adult Patients With Mild To Moderate Ulcerative Colitis: A Randomized Controlled-Feeding Trial, Albert Sheng-Yin Chen, Long Nguyen, Brianna Gray, Katherine Williams, Jenny Gurung, Lauren Canha, Jessica Mcgoldrick, Jane Hubbard, Hamed Khalili Jul 2026

Specific Carbohydrate Diet Versus Mediterranean Diet In Adult Patients With Mild To Moderate Ulcerative Colitis: A Randomized Controlled-Feeding Trial, Albert Sheng-Yin Chen, Long Nguyen, Brianna Gray, Katherine Williams, Jenny Gurung, Lauren Canha, Jessica Mcgoldrick, Jane Hubbard, Hamed Khalili

Student Papers, Posters & Projects

Background and aims: This pilot randomized controlled-feeding trial compared the effect of Specific Carbohydrate Diet (SCD) and Mediterranean diet (MeD) in mild to moderate ulcerative colitis (UC).

Methods: Seventeen adults were randomized to a 6-week SCD (n = 8) or MeD (n = 9) intervention. Primary outcome was change in partial Mayo Clinic score (pMCS).

Results: The study was discontinued early due to significant dropout (n = 9, 52.9%). There was no significant between-group differences observed for pMCS change (SCD, -0.8; MeD, -1.3; p = 0.499) or secondary outcomes. Exploratory metagenomic analysis revealed enrichment of Parasutterella excrementihominis …


Progesterone And Cerclage Together For Short Cervix: Evaluating Potential Complementary Effects For Improved Preterm Birth Prevention, Vincenzo Berghella, Ilaria Paladino, Moti Gulersen, Lauren Sayres, Amanda Roman, Rupsa C. Boelig Jul 2026

Progesterone And Cerclage Together For Short Cervix: Evaluating Potential Complementary Effects For Improved Preterm Birth Prevention, Vincenzo Berghella, Ilaria Paladino, Moti Gulersen, Lauren Sayres, Amanda Roman, Rupsa C. Boelig

Department of Obstetrics and Gynecology Faculty Papers

Management of patients with a short cervical length (CL) on transvaginal ultrasound (TVU) often involves therapy with vaginal progesterone and/or cervical cerclage. Although these interventions are frequently viewed as alternative strategies, they may also represent complementary approaches targeting different mechanisms involved in spontaneous preterm birth. As in other areas of medicine, therapies with different mechanisms are often used together rather than as mutually exclusive options. In line with current level 1 evidence from randomized controlled trials (RCTs) and meta-analyses of RCTs on either vaginal progesterone or cerclage, in singleton gestations with no prior spontaneous preterm birth (SPTB), vaginal progesterone is …