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Heat Stroke Encephalopathy Without The Presence Of Distinct Imaging Findings: Case Report And Review Of Literature, Ryan Sholes, David J. Walz, Julia S. Evans, Tessa Connelly, Joseph Rigotti Jun 2026

Heat Stroke Encephalopathy Without The Presence Of Distinct Imaging Findings: Case Report And Review Of Literature, Ryan Sholes, David J. Walz, Julia S. Evans, Tessa Connelly, Joseph Rigotti

Abington Jefferson Health Papers

Heat stroke is a life-threatening emergency characterized by severe hyperthermia and acute central nervous system (CNS) dysfunction. We describe a 72-year-old man who was found unresponsive in his vehicle on a day with ambient temperatures exceeding 90°F. On arrival, his core temperature was 105.8°F, and Glasgow Coma Scale (GCS) score was 5. Despite prompt initiation of active cooling and supportive care with normalization of body temperature, the patient developed persistent and fluctuating encephalopathy. Extensive metabolic, infectious, and toxicologic evaluations were unrevealing. Thyroid-stimulating hormone was normal, arterial blood gases showed no acid-base derangements, ammonia and liver function tests were within normal …


Comments On The Letter “Bridging The Gap: The Critical Next Steps For Implementing Genetic Risk Scores In Myocardial Infarction Prevention In Saudi Arabia, Abdullah Saeed Jun 2026

Comments On The Letter “Bridging The Gap: The Critical Next Steps For Implementing Genetic Risk Scores In Myocardial Infarction Prevention In Saudi Arabia, Abdullah Saeed

Journal of the Saudi Heart Association

No Abstract for this article type.


Bridging The Gap: The Critical Next Steps For Implementing Genetic Risk Scores In Myocardial Infarction Prevention In Saudi Arabia, Ahmed Almohammadi Jun 2026

Bridging The Gap: The Critical Next Steps For Implementing Genetic Risk Scores In Myocardial Infarction Prevention In Saudi Arabia, Ahmed Almohammadi

Journal of the Saudi Heart Association

No Abstract for this article type.


Disease-Causing Mfn2 Mutants Impair Mitochondrial Fission Dynamics By Distinct Drp1 Dysregulation, Daniel Lagos, Pamela R. De Santiago, Nicolás Pérez-Bravo, Benjamín Cartes-Saavedra, Josefa Vial-Brizzi, Diego Troncoso-Chandía, Oliver Podmanicky, Rita Horvath, Verónica Eisner Jun 2026

Disease-Causing Mfn2 Mutants Impair Mitochondrial Fission Dynamics By Distinct Drp1 Dysregulation, Daniel Lagos, Pamela R. De Santiago, Nicolás Pérez-Bravo, Benjamín Cartes-Saavedra, Josefa Vial-Brizzi, Diego Troncoso-Chandía, Oliver Podmanicky, Rita Horvath, Verónica Eisner

Department of Pathology, Anatomy, and Cell Biology Faculty Papers

Mitochondria undergo fusion and fission. While DRP1 regulates fission, fusion is controlled by OPA1, MFN1, and MFN2. The balance between these processes and the crosstalk between machineries remains poorly understood. MFN2 mutations cause Charcot-Marie-Tooth disease type 2 A (CMT2A), affecting mitochondrial fusion and morphology. However, their role in fission is unclear. Using skin fibroblasts from CMT2A patients (L248H and M376V MFN2 mutations) and wild-type mouse embryonic fibroblasts expressing these variants, we studied how MFN2 mutations impact mitochondrial dynamics beyond fusion. We analyzed mitochondrial morphology and dynamics by live-cell confocal microscopy and tested fusion/fission protein levels, oxygen consumption rate (OCR), extracellular …


Targeted Reflex Rna Sequencing For Enhanced Variant Classification On Exome And Genome Sequencing Improves Patient Outcomes, Xiaonan Zhao, Robert Rigobello, Morgan Driver, Sydney Lau, Mei Ling Chong, Jason Chibuk, Hongzheng Dai, Wilson C W Wu, Christina Peroutka, Laura Famularo, Alexander Y Kim, Bailey Hummel, Sarah Dugan, Tinsley Douglas, Linyan Meng, Fan Xia, Christine M Eng Jun 2026

Targeted Reflex Rna Sequencing For Enhanced Variant Classification On Exome And Genome Sequencing Improves Patient Outcomes, Xiaonan Zhao, Robert Rigobello, Morgan Driver, Sydney Lau, Mei Ling Chong, Jason Chibuk, Hongzheng Dai, Wilson C W Wu, Christina Peroutka, Laura Famularo, Alexander Y Kim, Bailey Hummel, Sarah Dugan, Tinsley Douglas, Linyan Meng, Fan Xia, Christine M Eng

Faculty, Staff and Students Publications

RNA sequencing (RNA-seq) has been utilized to provide functional evidence regarding the impact of splicing variants. This study explores the utility of targeted reflex RNA-seq to inform classification of predicted splicing variants identified through clinical exome sequencing (ES) and genome sequencing (GS). A retrospective analysis was conducted on consecutive ES/GS cases completed at a single center in which targeted reflex RNA-seq was performed following identification of eligible variants. There were 131 cases (4.1%) that had at least one RNA-seq eligible variant reported, with eight of these cases having two unique eligible variants. Of the 139 eligible variants, 125 were classified …


Safety And Synergy Of Finerenone And Empagliflozin In Lowering Blood Pressure, Rajiv Agarwal, Ricardo Correa-Rotter, Sankar D Navaneethan, Hiddo J L Heerspink, Matthew R Weir, Janet B Mcgill, Amy K Mottl, Masaomi Nangaku, Julio Rosenstock, Peter Rossing, Muthiah Vaduganathan, Charlie Scott, Li Li, Meike Brinker, Csaba P Kovesdy, Jennifer B Green, Johannes F E Mann Jun 2026

Safety And Synergy Of Finerenone And Empagliflozin In Lowering Blood Pressure, Rajiv Agarwal, Ricardo Correa-Rotter, Sankar D Navaneethan, Hiddo J L Heerspink, Matthew R Weir, Janet B Mcgill, Amy K Mottl, Masaomi Nangaku, Julio Rosenstock, Peter Rossing, Muthiah Vaduganathan, Charlie Scott, Li Li, Meike Brinker, Csaba P Kovesdy, Jennifer B Green, Johannes F E Mann

Faculty, Staff and Students Publications

Background: This secondary analysis of the CONFIDENCE (combination effect of fInerenone and empagliflozin in participants with chronic kidney disease and type 2 diabetes using a UACR endpoint) trial (REGISTRATION: URL: https://www.clinicaltrials.gov; Unique identifier: NCT05254002) assessed systolic blood pressure (SBP) changes with empagliflozin/finerenone combination therapy versus monotherapy in people with chronic kidney disease and type 2 diabetes across baseline SBP categories. We assessed SBP response predictors and whether early (day 30) SBP changes mediate urinary albumin-to-creatinine ratio reductions.

Methods: Participants (n=800) were stratified by baseline SBP (< 130 mm Hg; ≥130 mm Hg). Outcomes included SBP response (≥10 mm Hg reduction from baseline at day 180) and longitudinal SBP changes, analyzed by linear mixed-effects models and logistic regression. Causal mediation analysis, a secondary exploratory analysis, evaluated the effect of day 30 SBP change on day 180 urinary albumin-to-creatinine ratio reduction.

Results: At baseline, 532 (66%) participants had SBP ≥130 mm Hg; 268 (34%) …


The Aggregated Latent Profile Index: Measuring Person Profile Differentiation Within A Bootstrap-Validated Latent Profile Space, Se-Kang Kim Jun 2026

The Aggregated Latent Profile Index: Measuring Person Profile Differentiation Within A Bootstrap-Validated Latent Profile Space, Se-Kang Kim

Faculty, Staff and Students Publications

Multivariate assessment profiles contain two conceptually distinct sources of variation: overall level and profile shape. Existing approaches recover some aspects of this structure, but none jointly establishes the replicability of latent pattern dimensions and provides a principled, population-referenced summary of person profile differentiation independent of overall level. We introduce the Aggregated Latent Profile Index (ALPI), a variance-weighted Euclidean distance that quantifies the degree to which an individual’s profile departs from a flat population reference within a bootstrap-validated latent profile space. ALPI is derived from the Aggregated Latent Profile Space (ALPS), a framework that combines parallel analysis with bootstrap stability diagnostics …


Global Burden Of Drug-Resistant Tuberculosis In Children: A Systematic Analysis For The Global Burden Of Disease Study, Xuhui Liu, Peierdun Mijiti, Lu Xia, Sylvia M Lacourse, Wulan Talafuhan, Alexander W Kay, Yang Yang, Huarui Liu, Dan Ye, Leonardo Martinez, Shuihua Lu, Adong Shen, Anna M Mandalakas, Feng Li, Christoph Lange, Zhen Huang Jun 2026

Global Burden Of Drug-Resistant Tuberculosis In Children: A Systematic Analysis For The Global Burden Of Disease Study, Xuhui Liu, Peierdun Mijiti, Lu Xia, Sylvia M Lacourse, Wulan Talafuhan, Alexander W Kay, Yang Yang, Huarui Liu, Dan Ye, Leonardo Martinez, Shuihua Lu, Adong Shen, Anna M Mandalakas, Feng Li, Christoph Lange, Zhen Huang

Faculty, Staff and Students Publications

Background: Paediatric tuberculosis (TB), particularly drug-resistant TB (DR-TB), is associated with significant mortality. However, the global burden of childhood TB remains poorly understood.

Methods: We analysed incident cases, deaths, and age-standardised incidence and mortality rates among children (0-14 years) with multidrug-resistant/rifampicin-resistant tuberculosis (MDR/RR-TB) and extensively drug-resistant tuberculosis (XDR-TB) using the Global Burden of Disease (GBD) 2021 database. Data were stratified by age, sex, region, country, and HIV/AIDS status. Annual and average annual percentage changes were assessed using joinpoint regression analysis. Secondary analyses compared adult and paediatric TB trends in the End TB era and evaluated the potential impact of the …


Hypertensive Disorders Of Pregnancy, Covid And Readmission Status, Margaret Luebke, Ross Bindler, Trisha Saul, Linda Trinh Jun 2026

Hypertensive Disorders Of Pregnancy, Covid And Readmission Status, Margaret Luebke, Ross Bindler, Trisha Saul, Linda Trinh

Publications 2026-present

No abstract provided.


Cesarean Births Among Non-Us Born Hispanic Women: A Qualitative Study, Linda Presson, Christopher Arzadon, Cecilia Bustamante-Pixa, Wally Mijangos, Trisha Saul Jun 2026

Cesarean Births Among Non-Us Born Hispanic Women: A Qualitative Study, Linda Presson, Christopher Arzadon, Cecilia Bustamante-Pixa, Wally Mijangos, Trisha Saul

Publications 2026-present

No abstract provided.


Impact Of Lumen Origin And Gap Distance On Target Vessel Outcomes Following Fenestrated-Branched Endovascular Aortic Repair Of Postdissection Thoracoabdominal Aortic Aneurysms, Armin Tabiei, Jesse Chait, Andrea Vacirca, Randall R Demartino, Emanuel R Tenorio, Fahad Shuja, Dora Babocs, Guilherme B B Lima, Naveed Saqib, Gustavo S Oderich, Bernardo C Mendes Jun 2026

Impact Of Lumen Origin And Gap Distance On Target Vessel Outcomes Following Fenestrated-Branched Endovascular Aortic Repair Of Postdissection Thoracoabdominal Aortic Aneurysms, Armin Tabiei, Jesse Chait, Andrea Vacirca, Randall R Demartino, Emanuel R Tenorio, Fahad Shuja, Dora Babocs, Guilherme B B Lima, Naveed Saqib, Gustavo S Oderich, Bernardo C Mendes

Faculty, Staff and Students Publications

Background: This study evaluated the role of target vessel (TV) lumen origin and fenestration gap (FG) distance between the endograft and the aortic wall on TV outcomes following fenestrated-branched endovascular aortic repair (FB-EVAR) for postdissection thoracoabdominal aortic aneurysms (PD-TAAAs).

Methods: A multicenter review of prospectively and retrospectively collected data of patients undergoing FB-EVAR for PD-TAAAs between 2013 and 2023 was performed. Lumen origin was retrospectively analyzed on preoperative imaging studies and classified as true lumen (TL) only, false lumen (FL) only, or both TL and FL. The FG distance was retrospectively measured on postoperative imaging studies and included as a …


The Relationship Between Psychological Stress And Sars-Cov-2 Nucleocapsid-Antibody Response Following Natural Infection: Longitudinal Findings From The Aegis Study, Erika T Beidelman, Ashley Judge, David B Allison, Stephanie Dickinson, Lilian Golzarri Arroyo, Anna L M Macagno, Michael J Ricciardi, Jon Macy, Stanley Perlman, Christina Ludema, Kevin C Maki, Molly Rosenberg Jun 2026

The Relationship Between Psychological Stress And Sars-Cov-2 Nucleocapsid-Antibody Response Following Natural Infection: Longitudinal Findings From The Aegis Study, Erika T Beidelman, Ashley Judge, David B Allison, Stephanie Dickinson, Lilian Golzarri Arroyo, Anna L M Macagno, Michael J Ricciardi, Jon Macy, Stanley Perlman, Christina Ludema, Kevin C Maki, Molly Rosenberg

Faculty, Staff and Students Publications

Psychological stress can cause diminished immune response to infectious challenges. The extent this holds true during severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infection and the modifying effect of vaccination status is untested. We explored these relationships in a non-random sample standardized to the US adult population. Across 2178 participants in the Aegis study (2021-2022), we identified 507 eligible laboratory-confirmed SARS-CoV-2 infections. We estimated the natural log of nucleocapsid-binding antibody absorbance (N-antibody) at study visits up to 225 days following a positive SARS-CoV-2 test. Linear mixed effects models were fit to estimate the association of baseline perceived stress and, separately, …


Optimizing The Sensitivity Of Detection Of Respiratory Syncytial Virus Infections In Longitudinal Studies Using The Combination Of Weekly Sample Testing And Biannual Serology., Shannon C. Conrey, Daniel C. Payne, Maria Deza Leon, Monica Epperson, Melissa M. Coughlin, Allison R. Burrell, Claire P. Mattison, Rachel M. Burke, Julia M. Baker, Natalie J. Thornburg, Meredith L. Mcmorrow, Mary Allen Staat, Ardythe L. Morrow Jun 2026

Optimizing The Sensitivity Of Detection Of Respiratory Syncytial Virus Infections In Longitudinal Studies Using The Combination Of Weekly Sample Testing And Biannual Serology., Shannon C. Conrey, Daniel C. Payne, Maria Deza Leon, Monica Epperson, Melissa M. Coughlin, Allison R. Burrell, Claire P. Mattison, Rachel M. Burke, Julia M. Baker, Natalie J. Thornburg, Meredith L. Mcmorrow, Mary Allen Staat, Ardythe L. Morrow

Manuscripts, Articles, Book Chapters and Other Papers

Cohort studies are often challenged by incomplete adherence to sampling regimens, limiting the full capture of disease burden. We describe the detection of respiratory syncytial virus (RSV) infections achieved in a birth cohort using a combination of weekly nasal sample testing and serology. The Pediatric Respiratory and Enteric Viral Acquisition and Immunogenesis Longitudinal Cohort followed 245 maternal-child dyads from birth to age 18 to 24 months. Weekly mid-turbinate nasal swabs were tested for RSV using real-time polymerase chain reaction (RT-qPCR). Serum was tested for RSV pre-fusion F IgG and IgA antibody at age 6 weeks and biannually from 6 to …


Cytosine Base Editing Of Lpa In Transgenic Mice Averts Large Deletions, Marcel A Chuecos, So Hyun Park, Madhvi M Bhakta, Usosa Too-Chiobi, Daniel Betancourth, Mingming Cao, Marco De Giorgi, Christopher J Walkey, Anjana Tiwari, Biana Godin, Julia M Assini, Donna J Palmer, Philip Ng, Michael B Boffa, Marlys L Koschinsky, Gang Bao, William R Lagor Jun 2026

Cytosine Base Editing Of Lpa In Transgenic Mice Averts Large Deletions, Marcel A Chuecos, So Hyun Park, Madhvi M Bhakta, Usosa Too-Chiobi, Daniel Betancourth, Mingming Cao, Marco De Giorgi, Christopher J Walkey, Anjana Tiwari, Biana Godin, Julia M Assini, Donna J Palmer, Philip Ng, Michael B Boffa, Marlys L Koschinsky, Gang Bao, William R Lagor

Faculty, Staff and Students Publications

Lipoprotein(a) (Lp(a)) is a genetically determined causal risk factor for cardiovascular disease, with approximately 20% of the population exhibiting elevated levels. While there are promising drugs in development, there are currently no approved therapies specifically designed to lower Lp(a) levels. For high-risk individuals with extreme levels of Lp(a), liver-directed genome editing could be an effective one-time solution. Genome editing approaches such as CRISPR and TALENs can reduce Lp(a) in LPA-transgenic mouse models, but they frequently induce large and potentially harmful genomic deletions. Here, we report the first application of TadA-derived cytosine base editing (CBE), delivered via helper-dependent adenovirus (HDAdV) and …


Perioperative Care Of A Child With Miller-Dieker Syndrome., Samantha A Currier, Lance M Relland, Joseph D Tobias Jun 2026

Perioperative Care Of A Child With Miller-Dieker Syndrome., Samantha A Currier, Lance M Relland, Joseph D Tobias

Ambulatory and Primary Care Articles

Miller-Dieker syndrome (MDS), also known as Miller-Dieker lissencephaly syndrome or chromosome 17p13.3 deletion syndrome, is a rare chromosomal disorder (microdeletion syndrome) characterized by lissencephaly, altered facial features, and neurologic disability. Classic phenotypic findings include a prominent forehead, micrognathia, and a short nose. Children with MDS are often born with associated end-organ involvement including congenital heart disease as well as motor and neurologic impairments including seizures. Progressive central nervous system involvement frequently leads to upper airway and swallowing dysfunction with recurrent bouts of aspiration, pneumonia, and respiratory failure. We present a 3-year-old child with MDS who presented for anesthetic care for …


Impact (Immune Monitoring And Phenotype Assessment Of Clinical Trajectory) For Patients With Inborn Errors Of Immunity From The Primary Immune Deficiency Treatment Consortium (Pidtc), Danielle E Arnold, Hesham Eissa, Elizabeth Dunn, Geoffrey D E Cuvelier, Nicola A M Wright, Rebecca A Marsh, Suhag Parikh, Blachy Davila Saldana, Mark T Vander Lugt, Rosa Bacchetta, Lisa Forbes Satter, Shanmuganathan Chandrakasan, Erinn Kellner, Eric J Allenspach, Erica G Schmitt, Brent Logan, Lauri Burroughs, Morton J Cowan, Linda M Griffith, Luigi Notarangelo, Sung-Yun Pai, Michael A Pulsipher, Christopher C Dvorak, Elie Haddad, Jennifer M Puck, Troy R Torgerson, Jennifer W Leiding, Jennifer Heimall, Alice Y Chan Jun 2026

Impact (Immune Monitoring And Phenotype Assessment Of Clinical Trajectory) For Patients With Inborn Errors Of Immunity From The Primary Immune Deficiency Treatment Consortium (Pidtc), Danielle E Arnold, Hesham Eissa, Elizabeth Dunn, Geoffrey D E Cuvelier, Nicola A M Wright, Rebecca A Marsh, Suhag Parikh, Blachy Davila Saldana, Mark T Vander Lugt, Rosa Bacchetta, Lisa Forbes Satter, Shanmuganathan Chandrakasan, Erinn Kellner, Eric J Allenspach, Erica G Schmitt, Brent Logan, Lauri Burroughs, Morton J Cowan, Linda M Griffith, Luigi Notarangelo, Sung-Yun Pai, Michael A Pulsipher, Christopher C Dvorak, Elie Haddad, Jennifer M Puck, Troy R Torgerson, Jennifer W Leiding, Jennifer Heimall, Alice Y Chan

Faculty, Staff and Students Publications

Background: Evaluating natural history and outcomes of rare inborn errors of immunity (IEIs) has been challenging due to the diverse disease manifestations and lack of standardized data.

Objective: To develop a set of standardized, quantitative, generalizable data collection modules to measure organ dysfunction in IEIs, modeled on the previously validated Common Terminology Criteria for Adverse Event system for grading treatment toxicity.

Methods: Disease conditions were organized by organ system. Experts from the Primary Immune Deficiency Treatment Consortium identified essential features of severe combined immunodeficiency, chronic granulomatous disease, Wiskott-Aldrich syndrome, and primary immune regulatory disorders and compared these to Common Terminology …


Evaluating Outcomes Of Alternative Pathologic Terminology In High-Grade Dysplastic Colorectal Lesions, Shaman Dalal, Aakash Desai, Nahel Tunio, Jacqueline Khalil, Devereaux Sellers, Marc Landsman Jun 2026

Evaluating Outcomes Of Alternative Pathologic Terminology In High-Grade Dysplastic Colorectal Lesions, Shaman Dalal, Aakash Desai, Nahel Tunio, Jacqueline Khalil, Devereaux Sellers, Marc Landsman

Division of Gastroenterology and Hepatology Faculty Papers

Background Pathologists occasionally classify colorectal adenomas with dysplastic mucosal invasion as intramucosal carcinoma (IMC), or carcinoma in situ (CIS), instead of high-grade dysplasia (HGD), potentially leading to earlier surveillance colonoscopies and inappropriate surgical referrals. We aimed to analyze differences in the management of patients with these diagnoses, and examined the factors that may lead to inappropriate early interval (IEI) follow-up recommendations for surveillance.

Methods We reviewed 870 colonoscopy and pathology reports from 2015-2022, excluding cases of colorectal cancer, inflammatory bowel disease, and lesions not amenable to endoscopic resection. Surveillance appropriateness was defined in accordance with the 2020 US Multi Society …


Activated Dorsomedial Hypothalamic Astrocytes Regulate Feeding Behavior, Bella M. Lisenby Jun 2026

Activated Dorsomedial Hypothalamic Astrocytes Regulate Feeding Behavior, Bella M. Lisenby

Honors Projects

The dorsomedial hypothalamus (DMH) region of the brain has been shown to be important for anticipatory feeding activity and play a role in restricting excessive food intake. In obese animals that overconsume calories, astrocytes within the DMH exhibit intracellular signaling changes indicative of cellular activation. Because astrocytes are known to influence neuronal function, we hypothesize that activated astrocytes regulate behavior. In the current study, we use chemogenetics combined with stereotaxic surgery to assess the contribution of astrocyte activity in the DMH towards metabolic behaviors.


Reducing Cardiovascular Disease Risk In Obesity: An Unexpected But Welcome Fourier Transformation, Layla A Abushamat, Arsalan Hamid, Vijay Nambi, Huaizhu Wu, Christie M Ballantyne Jun 2026

Reducing Cardiovascular Disease Risk In Obesity: An Unexpected But Welcome Fourier Transformation, Layla A Abushamat, Arsalan Hamid, Vijay Nambi, Huaizhu Wu, Christie M Ballantyne

Faculty, Staff and Students Publications

No abstract provided.


New Applications Of Cardiopulmonary Exercise Testing Parameters Characterize Age-Related Changes In Exercise Performance During Adolescence, Katerina Kourpas, Takeshi Tsuda Jun 2026

New Applications Of Cardiopulmonary Exercise Testing Parameters Characterize Age-Related Changes In Exercise Performance During Adolescence, Katerina Kourpas, Takeshi Tsuda

Department of Pediatrics Faculty Papers

BACKGROUND: Age-related changes in exercise performance during adolescence are complex because of progressive physical and functional changes, in which multiple factors are involved.

METHODS: Peak and submaximal cardiopulmonary exercise testing (CPET) parameters were studied in healthy children and adolescents.

RESULTS: TTotal 303 subjects were divided into six groups by ages and sex: ≤11 years old (yo) (28/22 for males/females), 12–15 yo (61/98), and ≥16 yo (52/42). Rest and peak heart rate (HR) were comparable in all groups. Absolute peak values of oxygen consumption (˙ VO2), work rate (WR), and oxygen pulse (OP) were higher in older age groups in both …


Nmda Receptor Subunit Nmr-2 Regulates Pathogen-Induced Immune Responses Via The Nervous System In C. Elegans, Benson Otarigho, Jonathan Lalsiamthara, Alejandro Aballay Jun 2026

Nmda Receptor Subunit Nmr-2 Regulates Pathogen-Induced Immune Responses Via The Nervous System In C. Elegans, Benson Otarigho, Jonathan Lalsiamthara, Alejandro Aballay

Faculty, Staff and Student Publications

Neural control of innate immunity must balance restraint of basal immune activity with rapid activation upon pathogen encounter. Glutamate, the primary excitatory neurotransmitter in the nervous system, has been implicated in several neurological disorders associated with inflammation, suggesting a potential link to immune regulation. However, how glutamatergic signaling contributes to immune balance remains unknown. Here, we demonstrated that the NMDA-type ionotropic glutamate receptor subunit NMR-2, a component of the NMDA receptor complex, acts in the


Rare Variants In Prkci Cause Van Der Woude Syndrome And Other Features Of Peridermopathy, Huai-Wei Huang, Michal Tyrlik, Po-Wen Huang, Adam I Yeo, Ah-Ram Kim, Norbert Perrimon, Chen-Yuan Tseng, Hugo J Bellen, Hyung Don Ryoo Jun 2026

Rare Variants In Prkci Cause Van Der Woude Syndrome And Other Features Of Peridermopathy, Huai-Wei Huang, Michal Tyrlik, Po-Wen Huang, Adam I Yeo, Ah-Ram Kim, Norbert Perrimon, Chen-Yuan Tseng, Hugo J Bellen, Hyung Don Ryoo

Faculty, Staff and Students Publications

Van der Woude syndrome (VWS) is an autosomal dominant disorder characterized by lower lip pits and orofacial clefts (OFCs). With a prevalence of ∼1 in 35,000 live births, it is the most common form of syndromic clefting. Most VWS is attributed to variants in IRF6 (∼70%) or GRHL3 (∼5%), leaving up to 25% of individuals without a molecular diagnosis. Both IRF6 and GRHL3 function in a transcriptional regulatory network (TRN) governing differentiation of periderm, a single epithelial cell layer preventing pathological adhesions during palatogenesis. Periderm disruption can elicit a spectrum of phenotypes, including lip pits and OFCs, pterygia, and severe …


Secondary Cutaneous Involvement In Peripheral T-Cell Lymphoma: Diagnostic Frameworks, Staging Integration, And Therapeutic Implications, Aura Calderon, Jose Loayza Pintado, Cristina Kochi, Jared Hensley, Andres Suarez Parraga, Everardo Cobos Jun 2026

Secondary Cutaneous Involvement In Peripheral T-Cell Lymphoma: Diagnostic Frameworks, Staging Integration, And Therapeutic Implications, Aura Calderon, Jose Loayza Pintado, Cristina Kochi, Jared Hensley, Andres Suarez Parraga, Everardo Cobos

School of Medicine Publications

The occurrence of secondary cutaneous manifestations in peripheral T-cell lymphoma (PTCL) is relatively infrequent and can resemble benign dermatoses, leading to diagnosis delays. We present the case of a 78-year-old female patient with a diagnosis of PTCL affecting the left parotid gland, who experienced a 2-day sudden and intensely pruritic skin eruption, which progressed from both forearms to the trunk, involving more than 50% of the total body surface area. Initially, the eruption was managed as a hypersensitivity reaction with antihistamines and corticosteroids, with temporary symptomatic relief; however, the rapid clinical progression in the context of an established diagnosis of …


Agreement Among Experienced Physical Therapist Clinicians In Naming Nystagmus: A Mixed-Methods Study Design, Lori Ann Leineke, Alessandra N. Garcia, Bridget Eubanks Jun 2026

Agreement Among Experienced Physical Therapist Clinicians In Naming Nystagmus: A Mixed-Methods Study Design, Lori Ann Leineke, Alessandra N. Garcia, Bridget Eubanks

Internet Journal of Allied Health Sciences and Practice

Purpose: Labeling nystagmus requires clinicians to consider multiple aspects of its presentation. The extent to which physical therapists (PTs) use consistent terminology for describing nystagmus is unknown. Recommendations for proper terminology exist, but adherence during clinical assessment has not been determined. This study investigated whether PTs with advanced vestibular rehabilitation skills and training consistently use standardized vocabulary to describe nystagmus patterns. Methods: This descriptive, cross-sectional, mixed-methods study utilized an online survey methodology, which included eight free-response questions. Participants viewed videos of nystagmus through Infrared or Frenzel goggles and documented their observations. A codebook of responses was created for each question, …


Impact Of Race And Acculturation On Lung Cancer Screening Eligibility: A Multicenter Lung Cancer Cohort Study, Eunji Choi, Christine S. Shusted, Harrison Yang, Haley M. Evans, Julia G. Katcher, Yiwey Shieh, Anil Vachani, Katharine Rendle, Julie A. Barta Jun 2026

Impact Of Race And Acculturation On Lung Cancer Screening Eligibility: A Multicenter Lung Cancer Cohort Study, Eunji Choi, Christine S. Shusted, Harrison Yang, Haley M. Evans, Julia G. Katcher, Yiwey Shieh, Anil Vachani, Katharine Rendle, Julie A. Barta

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

No abstract provided.


Anterior Cutaneous Nerve Entrapment Syndrome From Glucagon-Like Peptide-1 Receptor Agonist Injection, Neha Singh, Elisa Chaparro, Jordan Michael Shapiro, Emanuel Narcis Husu Jun 2026

Anterior Cutaneous Nerve Entrapment Syndrome From Glucagon-Like Peptide-1 Receptor Agonist Injection, Neha Singh, Elisa Chaparro, Jordan Michael Shapiro, Emanuel Narcis Husu

Faculty, Staff and Students Publications

Anterior cutaneous nerve entrapment syndrome (ACNES) is an underdiagnosed cause of abdominal pain. We report the first documented ACNES case following subcutaneous administration of glucagon-like peptide-1 receptor agonist. A 44-year-old man developed focal, neuropathic abdominal pain coinciding with initiation of tirzepatide injections. Clinical examination confirmed ACNES diagnosis, and pain improved after relocating injections away from the abdomen and initiating multimodal pharmacotherapy. This case emphasizes the need to consider ACNES in patients endorsing focal abdominal pain with concurrent use of glucagon-like peptide-1 therapy and highlights injection site modification as a simple, effective management strategy while exercising self-restraint with respect to workup.


The Interplay Between Osteosarcopenia And Intrinsic Capacity: Insights And Associations With All-Cause Mortality In The Toledo Study For Healthy Aging, Ivan Baltasar-Fernandez, Pedro L. Valenzuela, Irene Rodríguez-Gómez, Fabio Quiñonez-Bareiro, Luis M. Alegre, Konstantinos Prokopidis, Leocadio Rodriguez-Mañas, Ignacio Ara, Oscar Rosas-Carrasco, Lana J. Williams, Robinson Ramirez-Vélez, Julie A. Pasco, Guy Hajj-Boutros, Raman Agnihotram, Marc Sim, Wayne Lok Ok Choo, Mahdi Imani, Ana M. Ayala-Copete, Julia Chabot, Miguel G. Borda, Nailton J. Neto, Claire Godard-Sebillotte, Howard Bergman, Anna Andrianova, Hidenori Arai, Pierrette Gaudreau Jun 2026

The Interplay Between Osteosarcopenia And Intrinsic Capacity: Insights And Associations With All-Cause Mortality In The Toledo Study For Healthy Aging, Ivan Baltasar-Fernandez, Pedro L. Valenzuela, Irene Rodríguez-Gómez, Fabio Quiñonez-Bareiro, Luis M. Alegre, Konstantinos Prokopidis, Leocadio Rodriguez-Mañas, Ignacio Ara, Oscar Rosas-Carrasco, Lana J. Williams, Robinson Ramirez-Vélez, Julie A. Pasco, Guy Hajj-Boutros, Raman Agnihotram, Marc Sim, Wayne Lok Ok Choo, Mahdi Imani, Ana M. Ayala-Copete, Julia Chabot, Miguel G. Borda, Nailton J. Neto, Claire Godard-Sebillotte, Howard Bergman, Anna Andrianova, Hidenori Arai, Pierrette Gaudreau

Research outputs 2022 to 2026

Background: Osteosarcopenia—the coexistence of osteopenia/osteoporosis and sarcopenia—is associated with numerous adverse health outcomes, but its association with intrinsic capacity (IC) remains unknown. We aimed to explore the associations of osteosarcopenia with IC and all-cause mortality in older adults. Methods: We conducted a cross-sectional analysis of IC and a prospective analysis of all-cause mortality in 1142 participants from the Toledo Study for Healthy Aging (75.1 ± 6.0 years, 53.1% women). Participants were classified as having no musculoskeletal disorders, osteopenia/osteoporosis, sarcopenia, or osteosarcopenia (DXA- and EWGSOP2-based criteria). IC was operationalized as a composite score integrating locomotion, cognition, psychological, vitality, and sensory domains. …


Ambulatory Blood Pressure Monitoring Phenotypes And Circadian Blood Pressure Patterns Among Adults Referred For Diagnostic Evaluation At Aga Khan University Hospital, Nairobi, Kenya: A Retrospective Cross-Sectional Study, Nadeem Kassam, Mzee Ngunga, James Orwa, Alisa Bhojani, Mohamed Varwani, Swaffiya Salim, Yvonne Oketch, Salim Surani, Anthony Ochola, Barbara Karau, Jeilan Mohamed, Etienne Amendezo Jun 2026

Ambulatory Blood Pressure Monitoring Phenotypes And Circadian Blood Pressure Patterns Among Adults Referred For Diagnostic Evaluation At Aga Khan University Hospital, Nairobi, Kenya: A Retrospective Cross-Sectional Study, Nadeem Kassam, Mzee Ngunga, James Orwa, Alisa Bhojani, Mohamed Varwani, Swaffiya Salim, Yvonne Oketch, Salim Surani, Anthony Ochola, Barbara Karau, Jeilan Mohamed, Etienne Amendezo

Internal Medicine, East Africa

Introduction: hypertension represents the primary modifiable risk factor for cardiovascular disease and poses a public health challenge in sub-Saharan regions, with Kenya experiencing particularly low detection and control rates. Traditional office-based blood pressure measurements often fail to detect key phenotypes, such as white-coat and masked hypertension. Ambulatory Blood Pressure Monitoring (ABPM) offers a comprehensive 24-hour profile that excludes white-coat hypertension and allows for the evaluation of circadian patterns, including nocturnal hypertension and non-dipping status, both of which are recognized as high-risk phenotypes strongly linked to adverse cardiovascular events. This study evaluated ABPM data from Aga Khan University Hospital, Nairobi …


Retrospective Chart Review Of Immobilized Lipase Cartridge Use In Children With Short Bowel Syndrome., Elizaveta Khenner, Jennifer Morton, Laura Green, Ashlee Yoder, Kayla Paul, Ann E. Remmers, William San Pablo Jun 2026

Retrospective Chart Review Of Immobilized Lipase Cartridge Use In Children With Short Bowel Syndrome., Elizaveta Khenner, Jennifer Morton, Laura Green, Ashlee Yoder, Kayla Paul, Ann E. Remmers, William San Pablo

Manuscripts, Articles, Book Chapters and Other Papers

This retrospective, single-center chart review studied the use of an in-line, immobilized lipase cartridge (ILC) in children with short bowel syndrome (SBS) at Children's Mercy Hospital. For parenteral nutrition (PN)-dependent patients, the primary endpoint was enteral feeding progression, evaluated by comparing monthly change from baseline in PN and enteral nutrition (EN) after the start of ILC use. For patients with enteral autonomy, changes from baseline in growth measure z-scores were evaluated. In 9 PN-dependent patients (with Type II or III SBS), mean PN use decreased 10.6 kcal/kg/day (15.5%) and mean EN use increased by 6.0 kcal/kg/day (39.9%) after 3.8 to …


Incidental Colorectal Adenomas In Adolescents: Clinical Management, Genetic Evaluation, And Surveillance., Brett J. Hoskins, Shlomi Cohen, Colleen B. Flahive, Isabel Rojas, Aparajita Singh, Thomas M. Attard Jun 2026

Incidental Colorectal Adenomas In Adolescents: Clinical Management, Genetic Evaluation, And Surveillance., Brett J. Hoskins, Shlomi Cohen, Colleen B. Flahive, Isabel Rojas, Aparajita Singh, Thomas M. Attard

Manuscripts, Articles, Book Chapters and Other Papers

The rising incidence of early-onset colorectal cancer has renewed attention to colorectal adenomas in adolescents and young adults (AYA), although these lesions remain rare and poorly characterized in adolescents. Lack of age-specific guidance creates uncertainty regarding genetic evaluation, surveillance intervals, and long-term management when these lesions are identified in adolescents. This narrative review synthesizes current evidence and expert perspective on epidemiology, evaluation, endoscopic management, surveillance, genetic considerations, and psychosocial implications of incidentally identified colorectal adenomas across the AYA spectrum, with emphasis on adolescents as a distinct clinical population. Available data largely derive from adults aged 20-49 years but suggest that …