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Plane Xanthoma, Connor A. Sheehan, Theresa N. Tran, Jason B. Lee, Jeffrey Y. Liu, Sylvia Hsu

Department of Dermatology and Cutaneous Biology Faculty Papers

No abstract provided.

A Conditional Point Cloud Diffusion Model For Deformable Liver Motion Tracking Via A Single Arbitrarily-Angled X-Ray Projection, Jiacheng Xie, Hua-Chieh Shao, Yunxiang Li, Shunyu Yan, Chenyang Shen, Jing Wang, You Zhang

Faculty, Staff and Student Publications

Objective. Deformable liver motion tracking using a single x-ray projection enables real-time motion monitoring and treatment intervention. We introduce a conditional point cloud diffusion (PCD) model-based framework for accurate and robust liver motion tracking from arbitrarily angled single x-ray projections. Approach. We propose a conditional PCD model for liver motion tracking (PCD-Liver), which estimates volumetric liver motion by solving deformable vector fields (DVFs) of a prior liver surface point cloud, based on a single x-ray image. It is a patient-specific model of two main components: a rigid alignment model to estimate the liver’s overall shifts, and a conditional PCD …

Successful Primary Coronary Intervention During Prolonged Mechanical Cardiopulmonary Resuscitation For Acute Myocardial Infarction-Related Cardiac Arrest, Sadeq Tabatabai, Mosaad Abushabana, Ahmed Najah, Prasad Padmakar Kulkarni, Jasem Mohammed Alhashmi

Journal of the Saudi Heart Association

We report a case of a male patient with an acute inferior myocardial infarction who underwent successful primary coronary intervention during prolonged cardiac arrest (220 minutes) and continuous resuscitation using a mechanical chest compression device. He achieved full neurological recovery. Mechanical compression devices may help maintain perfusion and improve outcomes in such scenarios.

Macular Thinning And Microvasculature Abnormalities In Children With Sickle Cell Disease: A Longitudinal Analysis, Sally S. Ong, Ann Nampomba, Sara Rahman, Loka Thangamathesvaran, Grace Reilly, Jianqiao Ma, Jay Vaidya, Sophie Lanzkron, Adrienne W. Scott

Cardeza Foundation for Hematologic Research

PURPOSE: To assess longitudinal changes in retinal thickness and vessel density (VD) in pediatric sickle cell disease (SCD).

DESIGN: A prospective cohort study.

PARTICIPANTS: Children (< 18 years old) with HbSS and HbS variant (HbSC and HbS thalassemia) genotypes were enrolled from a university-based retina subspecialty clinic from 2017 to 2019 and followed for ≥2 years.

METHODS: Participants received 3 × 3 and 6 × 6 mm OCT and OCT angiography scans at baseline and at each follow-up visit.

MAIN OUTCOME MEASURES: Retinal thickness, superficial capillary plexus (SCP), and deep capillary plexus (DCP) VD were compared over time.

RESULTS: Children with HbSS (n = 14) and HbS variant (n = 14) genotypes with ≥1 follow-up were included in the study (total 56 eyes). For HbSS, rates of retinal thinning per …

Utility Of Cenegermin For The Management Of Neurotrophic Keratopathy After Penetrating Keratoplasty, Alexandra R. Zaloga, Ashley Khalili, Brandon D. Ayres, Brenton D. Finklea, Beeran B. Meghpara, Christopher J. Rapuano, Zeba A. Syed

Wills Eye Hospital Papers

BACKGROUND: The study aimed to report the outcomes of patients treated with cenegermin 0.002% for neurotrophic keratopathy (NK) following penetrating keratoplasty (PK).

MATERIALS AND METHODS: This retrospective case series included patients evaluated at a tertiary care hospital who completed an 8-week course of cenegermin for NK within 12 months following PK. The primary outcome measure was NK stage, while secondary outcomes included complete epithelial healing, epithelial defect size, and best-corrected visual acuity (BCVA) at baseline and four time points during and following treatment. We also evaluated disease progression.

RESULTS: Fourteen eyes of 14 patients were included and demonstrated significant improvement …

Epidemiological Trends Of Facial Fractures In The United States, Gabriel I. Onor, Ugochi T. Aguwa, Nicholas Barksdale, Isaiah X. Hughes, Molly Milano, Camila Cordero, Uche Nwagu, Oluwatomi Akingbola, Chibuzo J. Aguwa, Michael C. Okoronkwo

Department of Orthopaedic Surgery Faculty Papers

BACKGROUND: Sustaining facial fractures may pose significant challenges to patients' health and quality of life. In the United States (U.S.), facial fractures account for 20 % of all sports-related injuries in pediatrics and many of these injuries are associated with traumatic brain injury. The objective of this study was to identify overall and sports-related incidence rates of facial fractures presenting to U.S. hospital emergency departments from 2014 to 2023 and define demographic risk factors for these injuries.

METHODS: The National Electronic Injury Surveillance System was queried to identify facial fractures from 2014 to 2023 as well as associated demographic data. …

Usp37 Counteracts Hltf To Protect Damaged Replication Forks And Promote Survival Of Brca1-Deficient Cells And Parp Inhibitor Resistance, Mengfan Tang, Siting Li, Ziqiang Zhu, Chao Wang, Shuai Ding, Huimin Zhang, Min Huang, Sarah Keast, Zhen Chen, Ling Yin, Litong Nie, Dan Su, Xu Feng, Junjie Chen

Faculty, Staff and Student Publications

Poly(ADP-ribose) polymerase inhibitors (PARPi) have greatly improved survival of cancer patients harboring BRCA1 mutations. However, therapy resistance develops via either restoration of homologous recombination or replication fork stabilization. Therapeutic targets to overcome PARPi resistance are critically needed. We identified the deubiquitinase USP37 as a key determinant of PARPi toxicity in BRCA1-deficient cells via whole-genome CRISPR screens. USP37 ablation enhanced PARPi sensitivity in BRCA1-deficient cells and also overcame PARPi resistance due to 53BP1 loss. USP37 interacts with and deubiquitinates replication protein A (RPA) at stalled replication forks to limit excessive RPA accumulation, progressive RPA exhaustion, and the conversion of RPA-coated single-stranded …

Protocol To Analyze Trna And Rrna Processing Using Biotin-Labeled Probes, Sseu-Pei Hwang, Katherine Barondeau, Catherine Denicourt

Faculty, Staff and Student Publications

Mature tRNAs and rRNAs are derived from larger precursor transcripts through intricate endo- and exonuclease processing steps. Here, we present a protocol to analyze rRNA and tRNA processing using total RNA extracted from human cells. We describe steps for separating RNA by denaturing electrophoresis, followed by northern blotting. We detail procedures for detecting pre-rRNA intermediates or specific tRNA species using biotin-labeled probes imaged via fluorescence or chemiluminescence. This non-radioactive, high-sensitivity assay enables the investigation of rRNA and tRNA expression dynamics. For complete details on the use and execution of this protocol, please refer to Hwang et al.

Characterization And Clinical Implications Of P53 Dysfunction In Patients With Myelodysplastic Syndromes, Matteo Zampini, Elena Riva, Luca Lanino, Elisabetta Sauta, Rita Antunes Dos Reis, Rosa Maria Andres Ejarque, Giulia Maggioni, Alberto Termanini, Alessandra Merlotti, Alessia Campagna, Lorenzo Dall'olio, Austin Kulasekararaj, Michela Calvi, Clara Di Vito, Arturo Bonometti, Daoud Rahal, Giorgio Croci, Emanuela Boveri, Umberto Gianelli, Maurilio Ponzoni, Rossella Caselli, Serena Albertazzi, Gabriele Todisco, Marta Ubezio, Laura Crisafulli, Alessandro Frigo, Enrico Lugli, Ettore Mosca, Pamela Acha, Serena Ghisletti, Francesco Nicassio, Armando Santoro, Maria Diez-Campelo, Francesc Solé, Lionel Ades, Uwe Platzbecker, Valeria Santini, Pierre Fenaux, Torsten Haferlach, David Sallman, Guillermo Garcia-Manero, Domenico Mavilio, Daniel Remondini, Gastone Castellani, Saverio D'Amico, Amer M Zeidan, Rami Komrokji, Shahram Kordasti, Francesca Ficara, Matteo Giovanni Della Porta, Calr Consortium

Faculty, Staff and Student Publications

Purpose: Tumor Protein 53 (p53) expressed from gene TP53 is a seminal tumor suppressor. We aimed to characterize mutational and nonmutational mechanisms of p53 dysfunction in myelodysplastic syndromes (MDS) and to investigate their clinical effect.

Patients and methods: We analyzed a cohort of 6,204 patients with MDS and subsets of patients with available information on RNA sequencing of tumor cells (n = 109), high-dimensional phenotype of immune cells (n = 77), and multiomics analysis (RNA sequencing and proteomics) on single cells (n = 15). An independent validation was performed on 914 patients.

Results: Biallelic TP53 inactivation was a powerful driver …

Hematological Parameters And Systemic Inflammatory Markers In Children With Viral Acute Lower Respiratory Tract Infections, Sadiye Sert, Fatma Sargin, Şerife Karaçal Say, Berna Erayman, Ebru Buldu

Journal of Pediatric Infectious Diseases

Objective: Viral acute lower respiratory tract infections (ALRTIs) are a leading cause of morbidity and mortality in children, particularly those under 5 years. Accurate diagnosis and timely management are crucial to improve outcomes. This study aimed to address the lack of comparative analysis between hematological and systemic inflammatory markers concerning established disease severity scores in children with viral ALRTIs. We sought to evaluate the correlations between these markers and severity scores to identify which parameters provide the most reliable predictive value for assessing the severity of ALRTI diagnoses in this population.

Methods: This retrospective cross-sectional study included 191 children hospitalized …

Evaluation Of Gastrointestinal Pathogens In Children With Inflammatory Bowel Disease Using Multiplex Polymerase Chain Reaction, Yeliz Çağan Appak, Özgür Appak, Betül Aksoy, Büşra Emi̇r, Ayça Arzu Sayiner, Maşallah Baran

Journal of Pediatric Infectious Diseases

Objective: Impaired gastrointestinal mucosa and immunosuppressant therapies increase the risk of secondary infection in patients with inflammatory bowel disease (IBD). This study evaluated the detection of pathogens in children with IBD using a gastrointestinal panel (GP). This is the first study to compare this method with clinical data from pediatric IBD patients.

Methods: Children with newly diagnosed IBD or experiencing disease flares were included. Demographic data, clinical and laboratory findings, treatments, treatment durations, and disease activity were analyzed. Stool samples were assessed using multiplex real-time polymerase chain reaction with QIAstat-Dx GP®. Results were compared between groups.

Results: Thirty-five patients with …

The Factor Viii Debate: An Auto-Cancelled Lab Near Miss, Avish Patel, Md, Daniel Elchediak, Md, Zachary Pang, Md, Charlotte Shields, Md, Bethanne Venkatesan, Md, Ananya Venkatesh, Md, Michael Alessandro, Bsn, Jeffrey Riggio, Md, Ms, Alexis Wickersham, Md

The Medicine Forum

Near misses, medical errors with no appreciable resultant harm, often go undetected and underreported despite great emphasis on patient safety event reporting over the past two decades.¹ Additionally, near misses are often not triggers for proactive institutional corrective action due to the widespread retroactive safety culture following more harmful or catastrophic safety events.² At Thomas Jefferson University Hospital, all internal medicine first-year residents (PGY1s) participate in an immersive safety event review curriculum of near miss or low-harm safety events, previously described in the literature.³ The following details the event review findings and implemented health-system level changes following …

An Unusual Complication Of Metastatic Colorectal Cancer: Port-Site Hematoma As The First Sign Of Bone Marrow Involvement And Disseminated Intravascular Coagulation, Michael Predi, Do, Julia Palecki, Md, Jordan M. Isaacs, Ba, Ruben Rhoades, Md

The Medicine Forum

Disseminated intravascular coagulation (DIC) is a life-threatening condition marked by a spectrum of thrombosis due to activation of procoagulant factors and bleeding due to eventual consumption of these factors. DIC invariably occurs secondary to an underlying condition, including infection, inflammatory conditions, trauma, and malignancies. Treatment of DIC primarily involves treatment of the underlying cause.¹

Bone marrow invasion occurs when tumor cells infiltrate the hematopoietic marrow space, displacing progenitor cells and causing cytopenias. This process is distinct from bone metastases, where malignant cells spread to the cortical or trabecular bone, typically causing bone pain, pathologic fractures, or hypercalcemia. Disseminated carcinomatosis …

Be Afraid Of Severe Pulmonary Hypertension And Right Ventricular Failure In The Peri-Op Patient, Avish Patel, Md, Lily Ackermann, Md

The Medicine Forum

Heart failure (HF), particularly right ventricular (RV) failure, and pulmonary hypertension (PH) present significant risks during the perioperative period. Despite the fact that these comorbidities are not always considered in preoperative risk evaluation, they are very important when considering perioperative risk. Current risk assessment tools mainly include the Revised Cardiac Risk Index (RCRI); however, it does not effectively assess severity of HF or PH. This review aims to highlight the major points on peri-operative management in non-cardiac surgeries using a case of a patient with severe PH who experienced unexpected mortality from acute RV failure post-operatively.

Early Recurrent Midgut Volvulus Post Ladd's Procedure In A Newborn: A Case Report, Nicole Clarke, Joanna Sajdlowska, John Paul Bustamante, Nishith Bhattacharyya

Rowan-Virtua School of Osteopathic Medicine Departmental Research

Ladd's procedure is the standard surgical intervention for intestinal malrotation. Although generally curative, rare cases of early postoperative complications, including adhesions or recurrent volvulus, can necessitate reoperation. We present the case of a full-term newborn girl who underwent emergent Ladd's procedure on Day 3 of life for malrotation with volvulus. She was discharged on postoperative Day 17 but returned the following day with recurrent bilious emesis. Imaging suggested partial obstruction. Exploratory laparotomy revealed recurrent volvulus with two twists at the duodenojejunal junction, which was successfully reduced. The patient recovered well and was discharged on postoperative Day 8. This case underscores …

Assessment Of The Relationship Between Serum Vitamin D Levels And Its Cardiovascular Outcomes: A Systematic Review And Meta-Analysis Study, Reza Madadi, Sina Bakhshaei, Arian Tavasol, Mahmood Gorjizad, Rouhollah Hemmati, Masood Zangi

Journal of the Saudi Heart Association

Introduction: Cardiovascular events are the most common cause of mortality worldwide. Various studies have shown the relationship between serum 25- hydroxyvitamin D [25(OH) D] levels and cardiovascular events. The purpose of this study is to investigate the meta-analysis of the relationship between serum 25(OH) D levels and the risk of cardiovascular diseases (CVD), including stroke, coronary heart disease, peripheral arterial disease, and aortic disease in the population. Method: Using valid keywords and searching the Medline, Science Direct, Scopus, and web of sciences databases, 22 papers were compiled. Data analysis was performed in the group of people with low serum 25(OH)D …

Clinical And Radiological Features Of Atypical Adrenal Masses-A Multicenter Retrospective Study, Vania Balderrama-Brondani, Ruaa Al-Ward, Katja Kiseljak-Vassiliades, Lauren Fishbein, Danielle Dawes, Oksana Hamidi, Reza Pishdad, Juan Pablo Perdomo Rodriguez, Mohamad Anas Sukkari, Joseph R Grajo, Hans Kumar Ghayee, Sara Bedrose, Roland L Bassett, Amir H Hamrahian, Mouhammed Amir Habra

Faculty, Staff and Students Publications

Context: The natural history and malignant potential of cases classified as atypical adrenal masses (AAMs) are unknown.

Objective: To describe the radiological characteristics and clinical outcomes of AAMs.

Design and participants: A multicenter retrospective study. Patients ≥18 years old with AAMs [diameter of 10-39 mm on first imaging study and pre-contrast attenuation of >10 Hounsfield units (HU) on computed tomography] were studied. We excluded adrenal metastasis, pheochromocytoma, sarcoma, lymphoma, infiltrative lesions, and adrenal hemorrhage, as well as patients with genetic predisposition to adrenal neoplasms. Data are presented as percentages and median values with interquartile ranges (IQRs).

Results: We included 217 …

X-Linked Hypophosphatemia Management In Children: An International Working Group Clinical Practice Guideline., Dalal S. Ali, Thomas O. Carpenter, Erik A. Imel, Leanne M. Ward, Natasha M. Appelman-Dijkstra, Catherine Chaussain, Suzanne M. Jan De Beur, Pablo Florenzano, Hajar Abu Alrob, Rana Aldabagh, R Todd Alexander, Farah Alsarraf, Signe Sparre Beck-Nielsen, Martin Biosse-Duplan, Rachel K. Crowley, Karel Dandurand, Guido Filler, Lisa Friedlander, Seiji Fukumoto, Claudia Gagnon, Paul Goodyer, Corinna Grasemann, Chelsey Grimbly, Salma Hussein, Muhammad K. Javaid, Sarah Khan, Aneal Khan, Anna Lehman, Willem F. Lems, E Michael Lewiecki, Ciara Mcdonnell, Reza D. Mirza, Emmett Morgante, Archibald Morrison, Anthony A. Portale, Christina Rao, Yumie Rhee, Eric T. Rush, Heide Siggelkow, Sotirios Tetradis, Laura Tosi, Gordon Guyatt, Maria Luisa Brandi, Aliya A. Khan

Manuscripts, Articles, Book Chapters and Other Papers

CONTEXT: An International Working Group (IWG) developed new guidelines on the diagnosis, evaluation, management, and monitoring of X-linked hypophosphatemia (XLH) in children. Over the past 5 years, important advances have occurred in our understanding of the presentation, complications, and treatment of XLH.

METHODS: A group of 50 international experts in XLH from Canada, the United States, Europe, Asia, and South America, along with methodology experts and a patient partner, held 18 teleconference meetings in 2023-2024. These meetings addressed key issues regarding diagnosing, evaluating, managing, and monitoring XLH in children. Two systematic reviews were conducted to examine the impact of burosumab …

The Maturity-Onset Diabetes Of The Young (Mody) Calculator Overestimates Mody Probability In Hispanic Youth, Guido Alarcon, Anh Nguyen, Angus Jones, Beverley Shields, Maria J Redondo, Mustafa Tosur

Children’s Nutrition Research Center Staff Publications

Context: The applicability of the maturity-onset diabetes of the young (MODY) risk calculator to non-White European populations remains unknown.

Objective: We aimed to test its real-world application in Hispanic youth.

Methods: We conducted a retrospective chart review of Hispanic youth (< 23 years) with diabetes (n = 2033) in a large pediatric tertiary care center in the United States. We calculated MODY probability for all subjects, splitting them into 2 cohorts based on the original model: individuals who were started on insulin within 6 months of diabetes diagnosis (Cohort 1) and those who were not (Cohort 2).

Results: Cohort 1 consisted of 1566 individuals (median age [25p, 75p]: 16 [13, 19] years, 49% female), while Cohort 2 comprised 467 youth (median age [25p, 75p]: 17 [15, 20] years, 62% female). The mean MODY probability was 5.9% and 61.9% in Cohort 1 and Cohort 2, respectively. The mean probability for both cohorts combined was 18.8%, suggesting an …

Atad3 Is Essential For Mitochondrial Permeability Transition Pore Opening And Cardiac Ischemia Reperfusion Injury, Dexter Robichaux, Sual J Lopez, Arielys Mendoza, Daniel Ramirez, Suh-Chin J Lin, Jeffery D Molkentin, Pablo M Peixoto, Jason Karch

Faculty, Staff and Students Publications

The molecular identity of the mitochondrial permeability transition pore (mPTP) has remained elusive since the discovery of its existence over 75 years ago. Despite the numerous candidate proteins proposed, none have withstood genetic ablation, leaving them relegated to auxiliary regulatory roles. To date, no essential mPTP component has been identified. Here, we establish ATAD3 as the first essential component of the mPTP. Genetic deletion of Atad3 in cardiomyocytes and hepatocytes renders heart and liver mitochondria incapable of undergoing Ca 2+ -induced mPTP-dependent swelling. Moreover, these mitochondria exhibit the highest Ca 2+ retention capacity ever reported following genetic perturbation of the …

In Vivo Direct Lentiviral Gene Therapy Improves Disease Pathology In A Mucopolysaccharidosis Iva Murine Model, Betul Celik, Estera Rintz, Shaukat Khan, Andrés F. Leal, Fnu Nidhi, Shunji Tomatsu

Department of Pediatrics Faculty Papers

Mucopolysaccharidosis IVA (MPS IVA) is an autosomal recessive disorder that causes the accumulation of keratan sulfate (KS) and chondroitin-6-sulfate in bone and cartilage. This results in progressive skeletal dysplasia, with no effective treatment available. Our study hypothesized that direct lentiviral vector (LV) gene therapy could produce active enzymes from transduced cells, impacting bone and cartilage lesions in MPS IVA. We developed LVs carrying the GALNS gene under three promoters: ubiquitous (CBh), collagen type II (COL2A1), and Mac-1 integrin subunit (CD11b). At the newborn stage and 4 weeks, Galns-knockout mice received intravenous injections at different doses (5 × 10^{9 …}

The Tumor Suppressor Hnrnpk Induces P53-Dependent Nucleolar Stress To Drive Ribosomopathies, Pedro Aguilar-Garrido, María Velasco-Estévez, Miguel Ángel Navarro-Aguadero, Álvaro Otero-Sobrino, Marta Ibáñez-Navarro, Miguel Ángel Marugal, María Hernández-Sánchez, Prerna Malaney, Ashley Rodriguez, Oscar Benitez, Xiaroui Zhang, Marisa Jl Aitken, Alejandra Ortiz-Ruiz, Diego Megías, Manuel Pérez, Gadea Mata, Jesús Gomez, Miguel Lafarga, Orlando Domínguez, Osvaldo Graña-Castro, Eduardo Caleiras, Pilar Ximénez-Embun, Marta Isasa, Paloma Jimena De Andres, Sandra Rodríguez-Perales, Raúl Torres-Ruiz, Enrique Revilla, Rosa María García-Martín, Daniel Azorín, Josune Zubicaray, Julián Sevilla, Oleksandra Sirozh, Vanesa Lafarga, Joaquín Martínez-López, Sean M Post, Miguel Gallardo

Faculty, Staff and Student Publications

The nucleolus is a membraneless organelle and an excellent stress sensor. Any changes in its architecture or composition lead to nucleolar stress, resulting in cell cycle arrest and interruption of ribosomal activity, critical factors in aging and cancer. In this study, we identified and described the pivotal role of the RNA-binding protein HNRNPK in ribosome and nucleolar dynamics. We developed an in vitro model of endogenous HNRNPK overexpression and an in vivo mouse model of ubiquitous HNRNPK overexpression. These models showed disruptions in translation as the HNRNPK overexpression caused alterations in the nucleolar structure, resulting in p53-dependent nucleolar stress, cell …

Technical And Clinical Validity Of Assessing Measurable Residual Disease By Multicolor Flow Cytometry In An Unselected Acute Myeloid Leukemia Patient Cohort, Sa A Wang, Shaoying Li, Wei Wang, Jie Xu, Beenu Thakral, Shimin Hu, Chi Young Ok, Fuli Jia, Jeffrey L Jorgensen, L Jeffrey Medeiros, Farhad Ravandi, Nicholas J Short, Sanam Loghavi

Faculty, Staff and Student Publications

Context.—: Following the validation of a multicolor flow cytometry (MFC) assay for measurable residual disease (MRD) in acute myeloid leukemia (AML), this study examines its clinical applicability.

Objective.—: To evaluate the practicality and performance of MFC-based MRD detection in AML.

Design.—: Prospectively assessed AML MRD MFC in unselected AML patients achieving morphologic remission with follow-up studies, molecular genetics, and survival data.

Results.—: Among 379 patient bone marrow samples in this cohort, an interpretable result was obtained in 359 (95%). A total of 57 of the 359 cases (16%) were positive for MRD, and the most frequently observed immunophenotype was CD34+CD117+ …

Combined Anterior Palatoplasty With Barbed Suspension Pharyngoplasty In The Treatment Of Obstructive Sleep Apnea, Patheemon Thanachaikun, Natamon Charakorn

Chulalongkorn Medical Journal

Background: Surgery is a treatment option for obstructive sleep apnea (OSA) patients for whom positive airway pressure therapy is not chosen. Various palatal surgical techniques have been developed. However, the medical literature has limited accounts concerning the use of combination of these techniques to improved outcomes.

Objective: The aim of this study is to assess the efficacy of a combined anterior palatoplasty (AP) and barbed suspension pharyngoplasty (BSP) in treating adult OSA.

Methods: Data of OSA patients who underwent the combined AP with BSP between July 2020 to May 2024 were retrospectively reviewed. The surgical outcomes, including apnea-hypopnea index (AHI), …

Analysis Of Personality Traits, Intelligence Level And Ability To Cope With Stressful Situations And Their Impact On The Evaluation Of Judo Fights, Maciej Kostrzewa, Jan Supinski, Slawomir Kownacki, Miłosz Drozd, Anna Ścisłowska-Czarnecka, Jarosław Markowski, Jan Pilch, Alicja Markiel, Marcin Żak, Adam Maszczyk

Baltic Journal of Health and Physical Activity

Background: The aim of the study presented in this article was to conduct an analysis that would answer the research question: do personality traits such as extraversion, neuroticism, openness to experience, agreeableness, conscientiousness, intelligence level, and ability to cope with stressful situations correlate with the assessment of judo fights? Materials and Methods: Ninety individuals participated in the study, including international-class referees, national-class referees, coaches, and active judo athletes. The study used a correlational analysis approach to examine the relationships between personality traits and fight assessment criteria in judo. Results: The results indicate that in the referees' group, there is a …

Asymmetric Cingulum Bundle Connectivity Is Modulated By Paracingulate Sulcus Morphology, Isabel A Danstrom, Joshua A Adkinson, Meghan E Robinson, Lu Lin, Atul Maheshwari, Ben Shofty, Garrett Banks, Mohammed Hasen, Sameer A Sheth, Alica M Goldman, Eleonora Bartoli, Sarah R Heilbronner, Kelly R Bijanki

Faculty, Staff and Students Publications

The cingulum bundle (CB) is a group of axons supporting connectivity among several functional brain networks relevant in healthy and diseased states. The paracingulate sulcus (PCS) is present in at least one cerebral hemisphere across 70% of the population. PCS presence versus absence is linked to differences in structure and function of the anterior cingulate cortex, though the influence of PCS on the white matter of the CB remains unknown. The objective of this work was to define the CB electrographic connectivity profile and determine the impact of PCS morphology on CB engagement. Single-pulse electrical stimulation in combination with stereo-electroencephalography …

Management And Optimization Of Chronic Renal Insufficiency In The Setting Of Kidney Cancer A Systematic Review, Jessica K. Cobb, Hiroko Miyagi, Jad Chahoud, Claude Bassil, Philippe E. Spiess

Division of Internal Medicine Faculty Papers & Presentations

PURPOSE: There is a bidirectional relationship between chronic kidney disease and the incidence of renal cell carcinoma. Despite the frequency of patients with both chronic kidney disease and renal cell carcinoma, there are limited systematic reviews detailing the nuanced treatment. This review provides comprehensive insights for clinicians for managing chronic kidney disease, and renal cell carcinoma. Methods and Methods: We reviewed published literature that examined either chronic kidney disease and renal cell carcinoma or an indirect contributor of both.

RESULTS: We compare and contrast renal cell carcinoma treatment with partial and radical nephrectomies, ablative techniques, and radiation and their impact …

Type I Interferon Protects Against Bone Loss In Periodontitis By Mitigating An Interleukin (Il)-17-Neutrophil Axis, Jinmei Zhang, Qiong Ding, Angela X Wang, Maoxuan Lin, Ning Yu, Kevin Moss, Megumi A Williamson, Di Miao, Julie T Marchesan, Erliang Zeng, Wei Shi, Hongli Sun, Yu Leo Lei, Shaoping Zhang

Faculty, Staff and Student Publications

Type I interferons (IFNs-I), a group of pleiotropic cytokines, critically modulate host response in various inflammatory diseases. However, the role of the IFN-I pathway in periodontitis remains largely unknown. In this report, we describe that the IFN-β levels in the gingival crevicular fluid of human subjects were negatively associated with periodontitis and clinical gingival inflammation. Disruption of IFN-I signaling worsened alveolar bone resorption in a ligature-induced periodontitis murine model. Deficiency of the IFN-I pathway resulted in an exaggerated inflammatory response in myeloid cells and drastically increased the interleukin-17 (IL-17)-mediated neutrophil recruitment in the gingiva. We further identified that the myeloid …

Integrating Explainable Machine Learning And Transcriptomics Data Reveals Cell-Type Specific Immune Signatures Underlying Macular Degeneration, Khang Ma, Hosei Nakajima, Nipa Basak, Arko Barman, Rinki Ratnapriya

Faculty, Staff and Students Publications

Genome-wide association studies (GWAS) have established key role of immune dysfunction in Age-related Macular Degeneration (AMD), though the precise role of immune cells remains unclear. Here, we develop an explainable machine-learning pipeline (ML) using transcriptome data of 453 donor retinas, identifying 81 genes distinguishing AMD from controls (AUC-ROC of 0.80, CI 0.70–0.92). Most of these genes were enriched in their expression within retinal glial cells, particularly microglia and astrocytes. Their role in AMD was further strengthened by cellular deconvolution, which identified distinct differences in microglia and astrocytes between normal and AMD. We corroborated these findings using independent single-cell data, where …

Sensing Protein Structural Transitions With Microfluidic Modulation Infrared Spectroscopy, Lathan Lucas, Phoebe S Tsoi, Ananya Nair, Allan Chris M Ferreon, Josephine C Ferreon

Faculty, Staff and Students Publications

Microfluidic modulation spectroscopy-infrared (MMS) offers a label-free, high-sensitivity approach for quantifying changes in protein secondary structures under native solution conditions. MMS subtracts the solvent backgrounds from sample signals by alternately flowing proteins and matched buffers through a microfluidic chamber, yielding clear amide I spectra from microliter volumes. In this study, we validated MMS on canonical globular proteins, bovine serum albumin, mCherry, and lysozyme, demonstrating accurate detection and resolution of α-helix, β-sheet, and mixed-fold structures. Applying MMS to the intrinsically disordered protein Tau, we detected environment-driven shifts in transient conformers: both the acidic (pH 2.5) and alkaline (pH 10) conditions increased …