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Bi-Allelic Loss-Of-Function Variants In Tmem63b Cause Syndromic Surfactant Dysfunction Disorder, Sock Hoai Chan, Audra N Iness, Jill A Rosenfeld, Mir Reza Bekheirnia, Lindsay C Burrage, Matthew Hoi Kin Chau, Chaerish Eint Myet Chae Htoo, Eric C Kao, Shamika Ketkar, Wan Wan Lim, Xi Luo, Rifhan Mazlan, Elizabeth Mizerik, Kein Seong Mun, Kalyani R Patel, Lorraine Potocki, Christina K Rapp, Xavier Roca, Ana Saianda, Ignacio Iglesias-Serrano, Everlyn C Siew, Donald Yuhui Sim, David R Spielberg, Sok-Kun Tae, Jing Xian Teo, Julian Warfsmann, Fan Xia, Child-Eu Registry, Saumya S Jamuar, Ee Shien Tan, Matthias Griese, Weng Khong Lim, Meow-Keong Thong, Keren Machol Jul 2026

Bi-Allelic Loss-Of-Function Variants In Tmem63b Cause Syndromic Surfactant Dysfunction Disorder, Sock Hoai Chan, Audra N Iness, Jill A Rosenfeld, Mir Reza Bekheirnia, Lindsay C Burrage, Matthew Hoi Kin Chau, Chaerish Eint Myet Chae Htoo, Eric C Kao, Shamika Ketkar, Wan Wan Lim, Xi Luo, Rifhan Mazlan, Elizabeth Mizerik, Kein Seong Mun, Kalyani R Patel, Lorraine Potocki, Christina K Rapp, Xavier Roca, Ana Saianda, Ignacio Iglesias-Serrano, Everlyn C Siew, Donald Yuhui Sim, David R Spielberg, Sok-Kun Tae, Jing Xian Teo, Julian Warfsmann, Fan Xia, Child-Eu Registry, Saumya S Jamuar, Ee Shien Tan, Matthias Griese, Weng Khong Lim, Meow-Keong Thong, Keren Machol

Faculty, Staff and Students Publications

Transmembrane protein 63B gene (TMEM63B) encodes a mechanosensitive ion channel expressed in alveolar type II epithelial cells, where it mediates stretch-induced surfactant secretion. While heterozygous gain-of-function variants in TMEM63B have been associated with developmental and epileptic encephalopathy, no human disorder has previously been linked to bi-allelic loss-of-function variants. Here, we report five individuals from four unrelated families with childhood interstitial lung disease and bi-allelic predicted loss-of-function variants in TMEM63B. Affected individuals presented with early-onset respiratory distress, chronic hypoxemia, and diffuse parenchymal lung abnormalities on chest imaging. One individual died in infancy, two underwent bilateral lung transplantation, and two require oxygen …


Leadership-Mediated Retention Strategies To Sustain Workforce Capacity And Performance In Public Health, Meredith Winslow Wilkins Jul 2026

Leadership-Mediated Retention Strategies To Sustain Workforce Capacity And Performance In Public Health, Meredith Winslow Wilkins

Walden Dissertations and Doctoral Studies

Workforce retention challenges continue to affect public health leaders by contributing to staffing shortages, reduced organizational capacity, and disruptions in service delivery. Public health leaders are concerned with employee turnover because it affects workforce stability, organizational performance, and the ability to meet community health needs. Grounded in Herzberg’s motivation-hygiene theory, the purpose of this qualitative pragmatic inquiry was to explore effective workforce retention strategies used by public health leaders to retain skilled staff and strengthen organizational capacity and revenue. The participants were eight public health leaders in the Northeast region of the United States with responsibility for workforce management and …


When It’S Not Gastroparesis: Isolated Idiopathic Acth Deficiency Presenting With Recurrent Gastrointestinal Symptoms, Navya Pendyala, Md, Ramya Pendyala, Md, Anna Mathew, Md, Beatriz Torre, Md, Christopher Henry, Md Jul 2026

When It’S Not Gastroparesis: Isolated Idiopathic Acth Deficiency Presenting With Recurrent Gastrointestinal Symptoms, Navya Pendyala, Md, Ramya Pendyala, Md, Anna Mathew, Md, Beatriz Torre, Md, Christopher Henry, Md

The Medicine Forum

Adrenal insufficiency is an uncommon but important cause of nonspecific gastrointestinal symptoms. We present a 33-year-old male with recurrent nausea, vomiting, and presumed gastroparesis who was ultimately found to have isolated idiopathic ACTH deficiency after discordant diagnostic findings prompted further evaluation. His symptoms resolved rapidly with glucocorticoid replacement. This case highlights the importance of considering adrenal insufficiency in patients with unexplained gastrointestinal symptoms and systemic features despite negative structural work up and underscores the role of diagnostic anchoring in delayed diagnosis.


Squamous Cell Carcinoma Of The Sigmoid Colon: A Rare Late Presentation Of Metastatic Urothelial Cancer With Squamous Differentiation Of The Bladder, Hamzah Shariff, Md, Ghazal Ghafari, Do, Mph, Zachary Hoffer, Md, Phd, Danyall Saeed, Anila Mahesh, Md, Kishore Kumar, Md Jul 2026

Squamous Cell Carcinoma Of The Sigmoid Colon: A Rare Late Presentation Of Metastatic Urothelial Cancer With Squamous Differentiation Of The Bladder, Hamzah Shariff, Md, Ghazal Ghafari, Do, Mph, Zachary Hoffer, Md, Phd, Danyall Saeed, Anila Mahesh, Md, Kishore Kumar, Md

The Medicine Forum

Urothelial cell carcinoma (UCC) with squamous differentiation (SqD) is a subtype of bladder cancer with high metastatic potential. Metastasis of muscle-invasive UCC to the GI tract, with complete transition to squamous cell carcinoma (SCC), is rare, particularly in females. We present a female patient with high grade UCC with SqD treated with radical cystectomy and immunotherapy who presented with hematochezia 1 year after her cancer treatment. Imaging and colonoscopy revealed an annular, obstructing mass in the rectosigmoid region prompting sigmoid colectomy and partial proctectomy. Histopathology revealed invasive SCC. New gastrointestinal (GI) symptoms with prior invasive bladder cancer should prompt evaluation …


Spatially Dissecting Drivers Of Inter- And Intra-Tumoral Heterogeneity In Kenyan Breast Cancer, Mustapha Abubakar, Shahin Sayed, Hela Koka, Scott Lawrence, Karun Mutreja, Xing Hua, Petra Lenz, Samuel Anyaso-Samuel, Rosemary Kamau, Beryl Ooro Jul 2026

Spatially Dissecting Drivers Of Inter- And Intra-Tumoral Heterogeneity In Kenyan Breast Cancer, Mustapha Abubakar, Shahin Sayed, Hela Koka, Scott Lawrence, Karun Mutreja, Xing Hua, Petra Lenz, Samuel Anyaso-Samuel, Rosemary Kamau, Beryl Ooro

Pathology, East Africa

Despite growing evidence on the impact of intra-tumoral heterogeneity (ITH) in breast cancer (BC), its biological drivers and clinically relevant mitigation strategies remain poorly characterized, particularly in low-resource settings where spatial profiling is rarely applied. To address this gap, we conducted a comprehensive, multiplatform spatial profiling study of BC in a Kenyan population. Using the NanoString GeoMx™ Digital Spatial Profiler, we quantified 44 protein markers across 707 spatially defined, PanCK-segmented Areas of Illumination (AOIs) from 31 tumors. All tumors exhibited measurable ITH, with one-third showing marked heterogeneity. Sixteen patients exhibited two or more intrinsic subtypes within their tumors, three of …


Hiding In Plain Sight: A Case Of Intestinal Tuberculosis Masquerading As Benign Lower Gi Bleeding, Lavender Otom, Priyanka Panwar, Gerald Odong, Fatma Kassim, Patricia Okiro, Christopher Opio, Saleem Abdulkarim Jul 2026

Hiding In Plain Sight: A Case Of Intestinal Tuberculosis Masquerading As Benign Lower Gi Bleeding, Lavender Otom, Priyanka Panwar, Gerald Odong, Fatma Kassim, Patricia Okiro, Christopher Opio, Saleem Abdulkarim

Internal Medicine, East Africa

Background Intestinal tuberculosis (TB) represents the most common form of abdominal TB, often affecting the ileocaecal region. Lower gastrointestinal bleeding is an uncommon presentation and may create significant diagnostic uncertainty, particularly in immunocompromised patients and in settings where inflammatory bowel disease is also encountered.

Case Presentation A woman in her sixties from Africa presented with recurrent diarrhoea and intermittent haematochezia over a 6-month period. Initial endoscopic evaluation was nondiagnostic. Cross-sectional imaging later demonstrated multifocal bowel involvement affecting both the small and large bowel, including ileocaecal and rectoanal disease, with associated abdominopelvic lymphadenopathy. Histopathology from repeat colonoscopy biopsy showed caseating granulomas …


Covid-19 Case Study, Armando Olmeda Jul 2026

Covid-19 Case Study, Armando Olmeda

Distinguished Student Scholarship Collection

Coronavirus disease 2019 (COVID-19), caused by SARS-CoV-2, continues to affect healthcare systems and public health worldwide. This case study examines COVID-19 from an epidemiological perspective by looking at how the disease spreads, the populations most affected, the major risk factors, and the impact on healthcare systems. It also analyzes key epidemiological measures, including incidence, prevalence, hospitalization, and mortality trends, to better understand how the pandemic has changed over time. The findings show that older adults, individuals with chronic medical conditions, and socially disadvantaged populations continue to experience the greatest burden of disease, with social determinants of health playing an important …


Pearson Syndrome: Expanding The Clinical Spectrum Of A Mitochondrial Cytopathy-A Case Report, Alizah Faisal, Hooria Waqas, Hania Masood, Armeen Butt, Saad Rahman, Muhammad Sheraz Hameed, Syed Rafay Hussain Zaidi, Ali Iqbal, Muhammad Usama Naveed Jul 2026

Pearson Syndrome: Expanding The Clinical Spectrum Of A Mitochondrial Cytopathy-A Case Report, Alizah Faisal, Hooria Waqas, Hania Masood, Armeen Butt, Saad Rahman, Muhammad Sheraz Hameed, Syed Rafay Hussain Zaidi, Ali Iqbal, Muhammad Usama Naveed

Department of Medicine Faculty Papers

BACKGROUND: Pearson syndrome (PS) is a rare multisystem mitochondrial disorder characterized by single large-scale mitochondrial DNA deletions (SLSMDs). It typically presents in infancy with refractory sideroblastic anemia, exocrine pancreatic insufficiency, and failure to thrive. Due to its heterogeneous manifestations and resemblance to other hematological conditions, early diagnosis remains a clinical challenge.

CASE PRESENTATION: A south asian male infant presented with persistent pancytopenia, severe anemia unresponsive to intravenous and oral iron and multivitamin supplements, exocrine pancreatic insufficiency, failure to thrive, and metabolic acidosis. Born to consanguineous parents, the child had a significant family history of early infant deaths and hematological abnormalities. …


Use Of The Bethesda System For Reporting Thyroid Cytopathology In Thyroid Nodules Incoordination To The Appropriate Surgical Intervention, Rusul Abid Kareem, Basim Rassam Ghadhban Jul 2026

Use Of The Bethesda System For Reporting Thyroid Cytopathology In Thyroid Nodules Incoordination To The Appropriate Surgical Intervention, Rusul Abid Kareem, Basim Rassam Ghadhban

Iraqi Postgraduate Medical Journal

Background: The thyroid nodule refers to an abnormal growth of thyroid cells. Although the vast majority of thyroid nodules are benign, a small proportion of thyroid nodules are malignant. In order to diagnose and treat malignant thyroid nodules at the earliest stage, most of them need radiological and cytological evaluation. Fine-needle aspiration (FNA) using The Bethesda System for reporting thyroid cytopathology.Aim of study: To evaluate the significance of the Bethesda classification in detecting malignant thyroid nodule and relate the appropriate surgical intervention accordingly.Methods: prospective, case control study was conducted in Baghdad teaching hospital, 2nd floor. from 1st of December 2021 …


Esophageal Stricture Post Congenital Tracheoesophageal Fistula Repair, Zaid A. Zaid, Momtaz Al-Nima Jul 2026

Esophageal Stricture Post Congenital Tracheoesophageal Fistula Repair, Zaid A. Zaid, Momtaz Al-Nima

Iraqi Postgraduate Medical Journal

Background: It’s a narrowing of > 50% of the esophagus lumen or as a narrowing detected on a contrast study , or at esophagostomy in combination with symptomsTracheoesophageal fistula (TEF) is a relatively rare congenital anomaly occurring in one in 2500-3000 live births (3)Moreover, the life expectancy of the patients without proper treatment may be measured in weeksAim of study: evaluation of the demographics, surgical details, and postoperative outcomes of pediatric patients undergoing surgery for Tracheoesophageal Fistula (TEF) repair.Methods: The study was conducted at Pediatric Teaching Hospital/Medical City from December, 2022, to November , 2023. A total of 35 cases post …


Immunohistochemical Expression Of Estrogen Receptor In Papillary Thyroid Carcinoma With Lymph Node Metastasis, Furqan J. Albderi, Kaswer M. Altoriahi Jul 2026

Immunohistochemical Expression Of Estrogen Receptor In Papillary Thyroid Carcinoma With Lymph Node Metastasis, Furqan J. Albderi, Kaswer M. Altoriahi

Iraqi Postgraduate Medical Journal

Background: Papillary thyroid carcinoma (PTC) is the most common well-differentiated thyroid malignancy. The female predominance of PTC suggests a potential role for estrogen signaling, mediated through estrogen receptors (ER), in thyroid carcinogenesis and progression.Objective: This study aimed to evaluate estrogen receptor protein expression in papillary thyroid carcinoma with lymph node metastasis and to analyze its association with clinicopathological parameters.Methods: A retrospective study was conducted on 50 formalin-fixed, paraffin-embedded thyroid and corresponding lymph node tissue specimens from Iraqi patients with PTC and lymph node metastasis. ER expression was assessed by immunohistochemistry. Associations between ER expression and clinicopathological variables were analyzed using …


Identifying Palliative Care Needs In The Emergency Department, James Sullivan Jul 2026

Identifying Palliative Care Needs In The Emergency Department, James Sullivan

Doctor of Nursing Practice (DNP) Scholarly Project

This quality improvement project evaluated the implementation of the Palliative Care and Rapid Emergency Screening (P‑CaRES) tool to improve early identification of unmet palliative care (PC) needs among adults with advanced, life‑limiting illnesses presenting to a community emergency department (ED). The problem addressed was the absence of a standardized PC screening process, resulting in delayed recognition, missed referral opportunities, fragmented care, and repeated ED utilization. Guided by Plan‑Do‑Study‑Act cycles and the OhioHealth Change Management Model, the project integrated P‑CaRES into ED workflows, provided staff education, and established structured referral pathways. Over 12 weeks, clinicians completed 65 screenings; 57 patients met …


Inpatient Versus Outpatient Management Of Bilateral Optic Nerve Head Elevation Presentation To A Tertiary Emergency Department, Mengchen Suo, Johnny Lo, Fred K. Chen Jul 2026

Inpatient Versus Outpatient Management Of Bilateral Optic Nerve Head Elevation Presentation To A Tertiary Emergency Department, Mengchen Suo, Johnny Lo, Fred K. Chen

Research outputs 2022 to 2026

Introduction: Increased accessibility to fundus cameras has changed the referral pattern for patients with suspected bilateral optic nerve head elevation (BONHE) presenting to emergency departments (EDs). We aim to review the management of these patients to streamline the process. Methods: A retrospective review of patients with suspected BONHE referred to a tertiary centre ED between 2017 and 2022. We collected demographics, referral source, clinical assessment, neuroimaging and retinal imaging results. Final diagnosis and treatment outcomes were compared between those managed as inpatients and those managed as outpatients. Results: 100 patients were referred to the ED with a suspected BONHE. Most …


Challenge-Based Ex Vivo Immune Profiling Reveals Stimulus-Dependent Peripheral Immune Reprogramming In Alzheimer's Disease, C. A. Naranjo-Galvis, Jovanny Zabaleta, Ney Alliey Rodriguez, Luisa Matilde Salamanca-Duque Jul 2026

Challenge-Based Ex Vivo Immune Profiling Reveals Stimulus-Dependent Peripheral Immune Reprogramming In Alzheimer's Disease, C. A. Naranjo-Galvis, Jovanny Zabaleta, Ney Alliey Rodriguez, Luisa Matilde Salamanca-Duque

School of Medicine Publications

Altered immune function is increasingly recognized as a contributor to Alzheimer's disease (AD); however, it remains unclear whether peripheral immune alterations reflect constitutive inflammation or stimulus-dependent changes in immune responsiveness. Addressing this distinction is critical for understanding immune dysregulation in neurodegenerative diseases. In this study, we applied a challenge-based ex vivo immune profiling approach to characterize functional immune responsiveness in patients with AD and in cognitively healthy older adults. Peripheral blood mononuclear cells were exposed to defined innate, antigenic, and mitogenic stimuli, and cytokine and β-amyloid (Aβ) responses were quantified in culture supernatants. Diagnosis-by-stimulus interaction effects were assessed using generalized …


Advancing Dimensional Models Of Psychopathology In Cancer: Insights From Applying The Hierarchical Taxonomy Of Psychopathology (Hitop), Darren Haywood, Jai Carmichael, Miriam K. Forbes, Roman Kotov, Robert F. Krueger, Aidan G.C. Wright, Susan L. Rossell, David Castle, Wendy Lam, Maryam Lustberg, Colin E. Vize, Anna Ugalde, Phyllis Butow, Nicolas H. Hart Jul 2026

Advancing Dimensional Models Of Psychopathology In Cancer: Insights From Applying The Hierarchical Taxonomy Of Psychopathology (Hitop), Darren Haywood, Jai Carmichael, Miriam K. Forbes, Roman Kotov, Robert F. Krueger, Aidan G.C. Wright, Susan L. Rossell, David Castle, Wendy Lam, Maryam Lustberg, Colin E. Vize, Anna Ugalde, Phyllis Butow, Nicolas H. Hart

Research outputs 2022 to 2026

Objective: Cancer survivors, defined as those living with or beyond a cancer diagnosis, experience more than double the prevalence of psychopathology when compared to the general population. Categorical diagnostic systems, such as the Diagnostic and Statistical Manual of Mental Disorders (DSM), remain dominant in psycho-oncology despite concerns about reliability, validity, and clinical utility for this population. Dimensional frameworks, such as the Hierarchical Taxonomy of Psychopathology (HiTOP), offer a more precise alternative; however, they have not yet been widely applied in cancer survivors. Accordingly, the objective of this research was to examine the applicability of HiTOP to cancer survivors. Methods: Data …


Cerebrovascular Risk With Calcitonin Gene-Related Peptide Monoclonal Antibodies Versus Onabotulinumtoxina In Patients With Migraine: A Real-World Pharmacoepidemiologic Study In The National Institutes Of Health All Of Us Research Program, Sedat Gül, Bradley Ong, Stephen Trudeau, Nicolas Thompson, Hsiangkuo Yuan Jul 2026

Cerebrovascular Risk With Calcitonin Gene-Related Peptide Monoclonal Antibodies Versus Onabotulinumtoxina In Patients With Migraine: A Real-World Pharmacoepidemiologic Study In The National Institutes Of Health All Of Us Research Program, Sedat Gül, Bradley Ong, Stephen Trudeau, Nicolas Thompson, Hsiangkuo Yuan

Department of Jefferson Headache Center Papers and Presentations

AimTo evaluate whether initiation of calcitonin gene-related peptide (CGRP) monoclonal antibodies (mAbs) was non-inferior to initiation of onabotulinumtoxinA with respect to the hazard of ischemic stroke or transient ischemic attack (IS + TIA) in a real-world cohort of adults with migraine.MethodsWe conducted a retrospective, active-comparator, new-user pharmacoepidemiology study using the NIH All of Us Research Program Registered Tier Dataset (v8). Adults with migraine initiating CGRP mAbs (erenumab, fremanezumab, galcanezumab, eptinezumab) were compared with initiators of onabotulinumtoxinA from January 2018 through September 2023. The primary outcome was IS + TIA occurring more than 90 days after treatment initiation. Inverse probability of …


Characteristics Of Intensive Care Unit Registries - Findings From The Global Registry Icu Datasets (Grid) Survey, Luigi Pisani, Paola Lecce, Cornelius Sendagire, Vrindha Pari, Carlo Olivieri, Rabiul Uddin, Diptesh Aryal, Priyantha Athapattu, Sean Bagshaw, Wangari Siika Jul 2026

Characteristics Of Intensive Care Unit Registries - Findings From The Global Registry Icu Datasets (Grid) Survey, Luigi Pisani, Paola Lecce, Cornelius Sendagire, Vrindha Pari, Carlo Olivieri, Rabiul Uddin, Diptesh Aryal, Priyantha Athapattu, Sean Bagshaw, Wangari Siika

Anaesthesiology, East Africa

Background: Intensive care unit registries, which aim to improve the quality of intensive care unit care through benchmarking and quality improvement initiatives, are active worldwide, with considerable dishomogeneity. We aimed to map core datasets, additional variables, and research activities of these registries.

Methods: A cross-sectional survey was disseminated to registry leads between October 2023 and June 2024. The survey was structured into four main topics: registry characteristics and coverage, core dataset features, additional modules, and registry-enabled research.

Results: Leads of 34/42 national registries responded (response rate 81%), covering 3,337 intensive care units, with a larger representation from …


Fluoroquinolone Use And Risk Of Pneumothorax In Adults Hospitalized With Community Acquired Pneumonia: A Retrospective Cohort Study, Steven Yi B. S., Saurav Sumughan B.S., Jessica Cobb M. D., Erika J. Yoo Jul 2026

Fluoroquinolone Use And Risk Of Pneumothorax In Adults Hospitalized With Community Acquired Pneumonia: A Retrospective Cohort Study, Steven Yi B. S., Saurav Sumughan B.S., Jessica Cobb M. D., Erika J. Yoo

Department of Medicine Faculty Papers

Objectives: The objective of this study is to examine the relationship between fluoroquinolone exposure and pneumothorax risk in patients hospitalized with pneumonia.

Methods: This retrospective cohort study used the TriNetX US Collaborative Network. We defined two mutually exclusive cohorts of hospitalized adults based on exposure to antibiotic classes commonly used to treat community acquired pneumonia: fluoroquinolone (ciprofloxacin, moxifloxacin, levofloxacin, and ofloxacin) versus nonfluoroquinolone (amoxicillin, azithromycin, ceftriaxone, and doxycycline). Patients with connective tissue disorders were excluded. The primary outcome was the occurrence of pneumothorax within 60 days. We used Cox proportional hazards regression to estimate hazard ratios (HRs) adjusted for demographics, …


Improving Iv Access Outcomes In Obstetric Care Through A-Diva Scale Utilization And Point-Of-Care Ultrasound, Parth S. Patel, Matthew T. Komorowski Jul 2026

Improving Iv Access Outcomes In Obstetric Care Through A-Diva Scale Utilization And Point-Of-Care Ultrasound, Parth S. Patel, Matthew T. Komorowski

Doctor of Nurse Anesthesia Practice (DNAP) Manuscripts

Obstetric (OB) patients frequently present physiological changes, including edema, obesity, and peripheral vasoconstriction, that increase the risk of difficult intravenous access (DIVA). Multiple IV attempts can delay time-sensitive therapies in obstetric emergencies and increase patient discomfort and provider workload. Research studies have supported the use of the Modified Adult Difficult Intravenous Access (A-DIVA) scale to assess patients for DIVA, and the use of point-of-care ultrasound (POCUS) guided peripheral intravenous access (PIVA). In 2025, a preceding Doctor of Nurse Anesthesia Practice (DNAP) project implemented A-DIVA in the Labor & Delivery (L&D) unit of an OB department and found that 35% of …


Evidence-Based Classification Of Genes Implicated In Skeletal Disorders Using The Clingen Curation Framework, Ryan F Webb, Hannah Mccurry, Amanda Girod, Madeline Hughes, Emma Wilcox, Mayher Patel, Eleanor C Broeren, Kezang C Tshering, Marina Distefano, Lorenzo D Botto, Lindsay C Burrage, Valérie Cormier-Daire, Juan Dong, Nadja Ehmke, Deborah Krakow, Shahida Moosa, Geert Mortier, Sandesh Nagamani, Loren Pena, Pedro A Sanchez-Lara, Andrea Superti-Furga, Sheila Unger, Danita Velasco, Matthew L Warman, Kerry Brown, Deepika D'Cunha Burkardt, Carlos R Ferreira Jul 2026

Evidence-Based Classification Of Genes Implicated In Skeletal Disorders Using The Clingen Curation Framework, Ryan F Webb, Hannah Mccurry, Amanda Girod, Madeline Hughes, Emma Wilcox, Mayher Patel, Eleanor C Broeren, Kezang C Tshering, Marina Distefano, Lorenzo D Botto, Lindsay C Burrage, Valérie Cormier-Daire, Juan Dong, Nadja Ehmke, Deborah Krakow, Shahida Moosa, Geert Mortier, Sandesh Nagamani, Loren Pena, Pedro A Sanchez-Lara, Andrea Superti-Furga, Sheila Unger, Danita Velasco, Matthew L Warman, Kerry Brown, Deepika D'Cunha Burkardt, Carlos R Ferreira

Faculty, Staff and Students Publications

More than 770 genetic skeletal disorders have been described, most with disease-causing variants reported in 1 of over 550 different genes. The ClinGen Skeletal Disorders Gene Curation Expert Panel was established to determine the strength of the evidence that supports specific gene-disease relationships (GDRs). Such information can assist clinical testing laboratories in choosing genes that should be included on diagnostic panels. Nine genes accounting for the most frequently encountered skeletal dysplasias (COL1A1, COL1A2, COL2A1, FGFR3, SLC26A2, TRPV4, COMP, ALPL, and SOX9) associated in the medical literature with 26 different skeletal disorders were reviewed using a semi-quantitative scoring framework. This framework …


Cytokine-Based Strategies To Improve Prognostic Enrichment Of Pediatric Ards, E Scott Halstead, Todd M Umstead, Zissis C Chroneos, Cainan Riccio-Baum, S Rameeza Allie, Daniel J Mckeone, Debbie Spear, Ryan A Nofziger, Ronald C Sanders, Danielle Ahn, Jasmine C Dowell, Asdis F Wagner, Neal J Thomas, Prithvi Sendi, W Joshua Frazier, Courtney M Rowan, Parag N Jain, Dalia A Bashir, Stuart H Friess, Brian M Varisco, Jocelyn Grunwell, Aline B Maddux, Stephen T Famularo, Nadir Yehya Jul 2026

Cytokine-Based Strategies To Improve Prognostic Enrichment Of Pediatric Ards, E Scott Halstead, Todd M Umstead, Zissis C Chroneos, Cainan Riccio-Baum, S Rameeza Allie, Daniel J Mckeone, Debbie Spear, Ryan A Nofziger, Ronald C Sanders, Danielle Ahn, Jasmine C Dowell, Asdis F Wagner, Neal J Thomas, Prithvi Sendi, W Joshua Frazier, Courtney M Rowan, Parag N Jain, Dalia A Bashir, Stuart H Friess, Brian M Varisco, Jocelyn Grunwell, Aline B Maddux, Stephen T Famularo, Nadir Yehya

Faculty, Staff and Students Publications

Background: Hyper-inflammation is common to multiple critical care syndromes, including acute respiratory distress syndrome (ARDS) and sepsis, and is associated with worse outcomes. A signature of hyper-inflammatory ARDS has been described in adults using IL-6, TNFR1, and bicarbonate, and has prognostic utility. We investigated the application of this traditional parsimonious signature to pediatric ARDS patients and tested whether we could improve prognostic enrichment using other cytokines.

Methods: We leveraged a prospective multicenter cohort study of 500 children with ARDS (Linking Endotypes and Outcomes in Pediatric Acute Respiratory Distress Syndrome [LEOPARDS]; NCT04113434) study. Plasma samples were obtained within 24 h …


A Nationwide Central Diagnosis For Pediatric Cns Tumors In Japan: The Jccg Brain Tumor And Pathology Committees, Yoshiko Nakano, Junko Hirato, Takako Yoshioka, Tetsuya Takimoto, Sumihito Nobusawa, Kaishi Satomi, Ran Tomomasa, Seiji Yamada, Taku Homma, Shoh Sasaki, Ayako Yamazaki, Maki Sakaguchi, Yasuhide Takeuchi, Nei Fukazawa, Kai Yamasaki, Kohei Fukuoka, Yui Shinohara Kimura, Yuki Nagayama, Yohei Inoue, Akira Miyahira, Ema Yoshioka, Asako Katsuma, Hayato Fukusumi, Tomoko Shofuda, Yuko Hibiya, Yuko Matsushita, Mai Honda Kitahara, Yuki Yomoda, Miho Kato, Michael D Taylor, Yasuhito Arai, Tatsuhiro Shibata, Hiroaki Sakamoto, Keita Terashima, Yoshiki Arakawa, Toshihiro Kumabe, Ryo Nishikawa, Junichi Hara, Yonehiro Kanemura, Koichi Ichimura Jul 2026

A Nationwide Central Diagnosis For Pediatric Cns Tumors In Japan: The Jccg Brain Tumor And Pathology Committees, Yoshiko Nakano, Junko Hirato, Takako Yoshioka, Tetsuya Takimoto, Sumihito Nobusawa, Kaishi Satomi, Ran Tomomasa, Seiji Yamada, Taku Homma, Shoh Sasaki, Ayako Yamazaki, Maki Sakaguchi, Yasuhide Takeuchi, Nei Fukazawa, Kai Yamasaki, Kohei Fukuoka, Yui Shinohara Kimura, Yuki Nagayama, Yohei Inoue, Akira Miyahira, Ema Yoshioka, Asako Katsuma, Hayato Fukusumi, Tomoko Shofuda, Yuko Hibiya, Yuko Matsushita, Mai Honda Kitahara, Yuki Yomoda, Miho Kato, Michael D Taylor, Yasuhito Arai, Tatsuhiro Shibata, Hiroaki Sakamoto, Keita Terashima, Yoshiki Arakawa, Toshihiro Kumabe, Ryo Nishikawa, Junichi Hara, Yonehiro Kanemura, Koichi Ichimura

Faculty, Staff and Students Publications

In 2016, the Japan Children's Cancer Group launched a nationwide research initiative to provide central diagnosis incorporating pathology review and molecular profiling for pediatric central nervous system (CNS) tumors. Over the first eight years, 2224 cases were registered. Non-next-generation sequencing analyzes, such as pyrosequencing and NanoString, were routinely performed, mainly for glioma, medulloblastoma, and ependymoma. Additional analyzes, including methylation profiling and RNA sequencing, were conducted for selected diagnostically challenging cases. The most common diagnoses were low-grade glioma (26%), medulloblastoma (18%), germ cell tumor (16%), high-grade glioma (12%), and ependymoma (11%). Diagnostic or targetable alterations were detected in nearly half of …


Mechanisms Coordinating Exit From The Stem Cell State In Mammals, Emily J Park, Florencia Levin-Ferreyra, Bruno Di Stefano Jul 2026

Mechanisms Coordinating Exit From The Stem Cell State In Mammals, Emily J Park, Florencia Levin-Ferreyra, Bruno Di Stefano

Faculty, Staff and Students Publications

Differentiation requires coordinated exit from the stem cell state, during which gene regulatory networks sustaining self-renewal are dismantled, while lineage-specific programs are activated. This transition is governed by chromatin modifications, transcriptional networks, RNA processing, translational control, and metabolic rewiring that must operate with temporal precision. Despite significant progress in identifying individual regulatory components, understanding how these layers integrate to orchestrate irreversible cell fate commitment remains a fundamental challenge. This review examines common and unique regulatory principles governing stem cell exit, from totipotency during early embryogenesis to tissue-specific stem cell differentiation in adults. We synthesize recent findings on regulatory mechanisms across …


Nuclear Factor Of Activated T Cells As A Driver Of Tumor Progression And A Target For Precision Therapy, Hira Khan, Khushbakhat Alia, Yusra Al Dhaheri, Muhammad Naseem, Rabah Iratni, Edgar Serfling, Khalid Muhammad Jul 2026

Nuclear Factor Of Activated T Cells As A Driver Of Tumor Progression And A Target For Precision Therapy, Hira Khan, Khushbakhat Alia, Yusra Al Dhaheri, Muhammad Naseem, Rabah Iratni, Edgar Serfling, Khalid Muhammad

All Works

The Nuclear Factor of Activated T Cells (NFAT) family comprises closely related transcription factors. Numerous biological processes including angiogenesis, invasion, migration, proliferation, and cell survival are regulated by the NFAT family. NFATs are overexpressed and have increased transcriptional activity in a variety of human solid tumors and hematological cancers. Beyond tumor cell-intrinsic roles, NFAT has also emerged as an important regulator of the tumor microenvironment (TME), where it can influence immune cell behavior and contribute to mechanisms of immune evasion. The discovery of the multifaceted functions of NFATs has driven the need to further unveil their role in cancer and …


Da Mosang Tarsier Series: Developing Digital Bullying Prevention Materials For Filipino Parents Of Grade School Students, Rudy M. Danganan Jr., Ann Christine V. Braga, Maria Kristina S. Alfonso, Romelito Manuel D.S. Clorina, Ma. Regina Hechanova Jul 2026

Da Mosang Tarsier Series: Developing Digital Bullying Prevention Materials For Filipino Parents Of Grade School Students, Rudy M. Danganan Jr., Ann Christine V. Braga, Maria Kristina S. Alfonso, Romelito Manuel D.S. Clorina, Ma. Regina Hechanova

Children and Families

Bullying remains a significant public health and educational concern worldwide and is particularly prevalent in Philippine public schools, with Grade 7 students identified as a vulnerable group. Although the Anti-Bullying Act of 2013 (Republic Act No. 10627) mandates school-based policies and procedures, persistent implementation gaps underscore the need to strengthen home–school partnerships and equip parents with practical, culturally grounded response strategies. This paper describes the development of the Da Mosang Tarsier Series, a set of digital psychoeducational comic strips designed for Filipino parents of Grade 7 students. Guided by a user-centered design (UCD) framework, the project began with a Generative …


Just Opt For Caesarean Section And Pick The Birthdate': A Qualitative Study Exploring Women's Delivery Preferences After Caesarean Section In Urban Tanzania, Daudi Gidion, Columba Mbekenga, Miriam Mgonja, Marleen Temmerman, Muzdalfat Abeid Jul 2026

Just Opt For Caesarean Section And Pick The Birthdate': A Qualitative Study Exploring Women's Delivery Preferences After Caesarean Section In Urban Tanzania, Daudi Gidion, Columba Mbekenga, Miriam Mgonja, Marleen Temmerman, Muzdalfat Abeid

Obstetrics and Gynaecology, East Africa

Objectives To explore perspectives, preferences and decision-making regarding mode of delivery after a previous caesarean section among women in urban Tanzania.

Design A descriptive qualitative study using semi-structured in-depth interviews. Data were analysed using thematic analysis.

Setting A private tertiary hospital in Dar es Salaam, Tanzania.

Participants 11 women with one previous caesarean section who delivered at the study site were interviewed on the third day after delivery. Participants were purposively sampled to include both modes of delivery: five women underwent repeat caesarean section and six attempted a trial of labour after caesarean (TOLAC).

Results Thematic analysis identified four key …


Quality Improvement Project To Reduce Wait Time For Pediatric Gastrointestinal Procedures., Jennifer Colombo, Nicholas Clark, Laura E. Shroyer, Dustin J. Hahn, Jonathan Patterson, Kenneth Sam Jul 2026

Quality Improvement Project To Reduce Wait Time For Pediatric Gastrointestinal Procedures., Jennifer Colombo, Nicholas Clark, Laura E. Shroyer, Dustin J. Hahn, Jonathan Patterson, Kenneth Sam

Manuscripts, Articles, Book Chapters and Other Papers

INTRODUCTION: Delays in care can lead to poor health outcomes and suboptimal patient and family experiences. We aimed to reduce the average wait time for gastrointestinal endoscopic procedures (procedure request to procedure completion) from 145 to 15 days (a 90% reduction) within 4 months (November 2023 to March 2024).

METHODS: A3 problem-solving methodology was used. The primary intervention was a multiday, multidisciplinary improvement workshop. Outcome measures included (1) procedure request date to procedure completion date, and (2) favorable patient satisfaction score for timeliness of access to care. Process measures included (1) procedure request date to date procedure scheduled by staff, …


Current Practices And Variations Among Pediatric Severe Asthma Programs In The United States-The North American Severe Pediatric Asthma Consortium., Kristina Gaietto, Nadia Krupp, Avani V. Shah, Erhan Ararat, Samantha H. Averill, Sachin Baxi, Matejka Cernelc-Kohan, Jeffrey M. Chambliss, Heather De Keyser, Monica Federico, Bob Geng, Akilah A. Jefferson, Parisa Kaviany, Lila C. Kertz, Kirsten Kloepfer, Allyson Larkin, Sydney Leibel, Tanya Martinez-Fernandez, Samira Naime, Robert D. Pesek, Dinesh K. Pillai, Deepa Rastogi, Katherine Rivera-Spoljaric, Kristie R. Ross, Franziska J. Rosser, Tregony C. Simoneau, Jade Tam-Williams, Kelan G. Tantisira, William Anderson, Jonathan M. Gaffin, Theresa W. Guilbert, Erick Forno Jul 2026

Current Practices And Variations Among Pediatric Severe Asthma Programs In The United States-The North American Severe Pediatric Asthma Consortium., Kristina Gaietto, Nadia Krupp, Avani V. Shah, Erhan Ararat, Samantha H. Averill, Sachin Baxi, Matejka Cernelc-Kohan, Jeffrey M. Chambliss, Heather De Keyser, Monica Federico, Bob Geng, Akilah A. Jefferson, Parisa Kaviany, Lila C. Kertz, Kirsten Kloepfer, Allyson Larkin, Sydney Leibel, Tanya Martinez-Fernandez, Samira Naime, Robert D. Pesek, Dinesh K. Pillai, Deepa Rastogi, Katherine Rivera-Spoljaric, Kristie R. Ross, Franziska J. Rosser, Tregony C. Simoneau, Jade Tam-Williams, Kelan G. Tantisira, William Anderson, Jonathan M. Gaffin, Theresa W. Guilbert, Erick Forno

Manuscripts, Articles, Book Chapters and Other Papers

BACKGROUND: Severe and difficult to treat asthma in children is a complex condition causing significant morbidity and associated healthcare costs. While treatment guidelines exist for severe asthma, optimal treatment approaches for the pediatric population are less well established. Furthermore, best practices regarding real world management and implementation of guidelines for the severe pediatric asthma population are lacking. In order to provide care for this population, institutions around the United States have developed multidisciplinary severe pediatric asthma programs (SPAPs). In recent years, the North American Severe Pediatric Asthma Consortium (NASPAC) was established as a mechanism for SPAPs to collaborate and share …


Reading Burney’S Mastectomy Letter: Presentist Thinking And Personal Responses In The Classroom, Heather Meek Jun 2026

Reading Burney’S Mastectomy Letter: Presentist Thinking And Personal Responses In The Classroom, Heather Meek

ABO: Interactive Journal for Women in the Arts, 1640–1830

Frances Burney’s mastectomy letter, in its graphic and detailed depiction of the operation she underwent without anesthetic in 1811, does not always lend itself immediately to standard, scholarly classroom discussion. It tends, rather, to incite unusually intimate responses, as well as conversations about medicine and health today. In my teaching of the letter in literature courses at Université de Montréal over the course of the past 13 years, I have found that students are inclined to seize upon the subject of breast cancer as especially contemporary in its relevance and to share their own anecdotal knowledge of the disease. I …


Are Combat Athletes Different Sleepers? A Pittsburgh Sleep Quality Index-Based Comparative Survey Across Athletic Populations, Zofia Tkocz, Małgorzata Hołda Dr, Michał Spieszny, Adam Zając, Robert Trybulski, Aleksandra Filip-Stachnik Jun 2026

Are Combat Athletes Different Sleepers? A Pittsburgh Sleep Quality Index-Based Comparative Survey Across Athletic Populations, Zofia Tkocz, Małgorzata Hołda Dr, Michał Spieszny, Adam Zając, Robert Trybulski, Aleksandra Filip-Stachnik

Baltic Journal of Health and Physical Activity

Background: Sleep plays an important role in athletic performance, recovery, and cognitive function. The aim of this study was to compare sleep quality and selected sleep-related  variables in combat sports athletes and athletes from other sport disciplines . Materials and Methods: Ninety-eight competitive athletes participated in the study, including 52 combat sports athletes and 46 athletes  representing other sport disciplines. Sleep quality was assessed using the modified Pittsburgh Sleep Quality Index (PSQI) with a weekly recall period, global PSQI score and additional  variables, such as sleep duration, sleep latency, and habitual sleep-wake times, were analyzed using general linear models adjusted …