Diseases Commons^™

Comparison Of Bacterial Culture With Biofire® Filmarray® Multiplex Pcr Screening Of Archived Cerebrospinal Fluid Specimens From Children With Suspected Bacterial Meningitis In Nigeria, S Obaro, F Hassan-Hanga, N Medugu, Rasaq Olaosebikan, G Olanipekun, B Jibir, S Gambo, Theresa Ajose, Carissa Duru, B Ebruke, H D Davies

Department of Pharmacology and Experimental Therapeutics Faculty Papers

BACKGROUND: Diagnosis of bacterial meningitis remains a challenge in most developing countries due to low yield from bacterial culture, widespread use of non-prescription antibiotics, and weak microbiology laboratories. The objective of this study was to compare the yield from standard bacterial culture with the multiplex nested PCR platform, the BioFire® FilmArray® Meningitis/Encephalitis Panel (BioFire ME Panel), for cases with suspected acute bacterial meningitis.

METHODS: Following Gram stain and bacterial culture on cerebrospinal fluid (CSF) collected from children aged less than 5 years with a clinical suspicion of acute bacterial meningitis (ABM) as defined by the WHO guidelines, residual CSF specimens …

Should We Use Rifampicin In Periprosthetic Joint Infections Caused By Staphylococci When The Implant Has Been Exchanged? A Multicenter Observational Cohort Study, Tobias Siegfried Kramer, Alex Soriano, Sarah Tedeschi, Antonia F. Chen, Pierre Tattevin, Eric Senneville, Joan Gomez-Junyent, Victoria Birlutiu, Sabine Petersdorf, Vicens Diaz De Brito, Ignacio Sancho Gonzalez, Katherine A. Belden, Marjan Wouthuyzen-Bakker

Division of Infectious Diseases and Environmental Medicine Faculty Papers

BACKGROUND: Previous studies demonstrated the efficacy of a rifampicin-based regimen in the treatment of acute staphylococcal periprosthetic joint infections (PJIs) treated with surgical debridement. However, evidence is lacking to support the use of rifampicin in cases where the implant is exchanged during revision.

METHODS: We included all consecutive cases of staphylococcal PJIs treated from January 2013 to December 2018 with revision surgery in this international, retrospective, multicenter observational cohort study. PJI was defined according to the European Bone and Joint Infection Society diagnostic criteria. A relapse or reinfection during follow-up, the need for antibiotic suppressive therapy, the need for implant …

An Unusual Presentation Of Pigmented Purpuric Lichenoid Dermatitis, Christine De Antonis, Jordan T. Hyde, Jason B. Lee, Sylvia Hsu

Department of Dermatology and Cutaneous Biology Faculty Papers

Pigmented purpuric lichenoid dermatitis (PPLD) is a rare subtype of pigmented purpuric dermatosis, which classically presents with a mixture of lichenoid papules and patches on the bilateral lower extremities. Herein, we describe an unusual case of a 47-year-old man with PPLD who presented with 1-3mm discrete papules without the presence of larger patches. The diagnosis of PPLD should be considered for patients presenting with bilateral symmetric discrete papules on the legs.

The Role Of Non-Coding Rnas In Myelodysplastic Neoplasms, Vasileios Georgoulis, Epameinondas Koumpis, Eleftheria Hatzimichael

Computational Medicine Center Faculty Papers

Myelodysplastic syndromes or neoplasms (MDS) are a heterogeneous group of myeloid clonal disorders characterized by peripheral blood cytopenias, blood and marrow cell dysplasia, and increased risk of evolution to acute myeloid leukemia (AML). Non-coding RNAs, especially microRNAs and long non-coding RNAs, serve as regulators of normal and malignant hematopoiesis and have been implicated in carcinogenesis. This review presents a comprehensive summary of the biology and role of non-coding RNAs, including the less studied circRNA, siRNA, piRNA, and snoRNA as potential prognostic and/or predictive biomarkers or therapeutic targets in MDS.

Neurologic Outcomes For Adult Spinal Cord Ependymomas Stratified By Tumor Location: A Retrospective Cohort Study And 2-Year Outlook, Keanu Chee, Grégoire P Chatain, Michael W Kortz, Stephanie Serva, Keshari Shrestha, Timothy H Ung, Jens-Peter Witt, Michael Finn

Department of Neurosurgery Faculty Papers

Determine whether craniocaudal spinal cord tumor location affects long-term neurologic outcomes in adults diagnosed with spinal ependymomas (SE). A retrospective cohort analysis of patients aged ≥ 18 years who underwent surgical resection for SE over a ten-year period was conducted. Tumor location was classified as cervical, thoracic, or lumbar/conus. Primary endpoints were post-operative McCormick Neurologic Scale (MNS) scores at < 3 days, 6 weeks, 1 year, and 2 years. One-way ANOVA was performed to detect significant differences in MNS scores between tumor locations. Twenty-eight patients were identified. The average age was 44.2 ± 15.4 years. Sixteen were male, and 13 were female. There were 10 cervical-predominant SEs, 13 thoracic-predominant SEs, and 5 lumbar/conus-predominant SEs. No significant differences were observed in pre-operative MNS scores between tumor locations (p = 0.73). One-way ANOVA testing demonstrated statistically significant differences in post-operative MNS scores between tumor locations at < 3 days (p = 0.03), 6 weeks (p = 0.009), and 1 year (p = 0.003); however, no significant difference was observed between post-operative MNS scores at 2 years (p = 0.13). The mean MNS score for patients with thoracic SEs were higher at all follow-up time points. Tumors arising in the thoracic SE are associated with worse post-operative neurologic outcomes in comparison to SEs arising in other spinal regions. This is likely multifactorial in etiology, owing to both anatomical differences including spinal cord volume as well as variations in tumor characteristics. No significant differences in 2-year MNS scores were observed, suggesting that patients ultimately recover from neurological insult sustained at the time of surgery.

Repurposing Normal Chromosomal Microarray Data To Harbor Genetic Insights Into Congenital Heart Disease, Nephi Walton, Hoang Nguyen, Sara Procknow, Darren Johnson, Alexander Anzelmi, Patrick Jay

Department of Medicine Faculty Papers

About 15% of congenital heart disease (CHD) patients have a known pathogenic copy number variant. The majority of their chromosomal microarray (CMA) tests are deemed normal. Diagnostic interpretation typically ignores microdeletions smaller than 100 kb. We hypothesized that unreported microdeletions are enriched for CHD genes. We analyzed "normal" CMAs of 1762 patients who were evaluated at a pediatric referral center, of which 319 (18%) had CHD. Using CMAs from monozygotic twins or replicates from the same individual, we established a size threshold based on probe count for the reproducible detection of small microdeletions. Genes in the microdeletions were sequentially filtered …

Bilateral Severe Iatrogenic Pigmentary Glaucoma Following Laser Treatment For Cosmetic Iris Color Change, Jiaru Liu, Salim Korban, Marlene R. Moster, Marc-André Rhéaume, Qianqian Wang

Wills Eye Hospital Papers

PURPOSE: We report a case of bilateral severe pigmentary glaucoma and paracentral acute middle maculopathy (PAMM) following laser treatment for iris color change.

OBSERVATIONS: A 32-year-old female presented to our emergency clinic after having undergone 4 sessions of bilateral cosmetic iris laser treatment in Turkey to lighten the color of her dark brown irides. Visual acuity was 20/150 in the right eye (OD) and counting fingers in the left eye (OS) at presentation. Intraocular pressures (IOP) were 50 mmHg in the right eye and 42 mmHg in the left eye, with 4+ free-floating pigmented cells in the anterior chamber. The …

Ciliochoroidal Melanoma Masquerading As A Conjunctival Nevus, Samantha Pastore, Konica Singla, Carol L. Shields

Wills Eye Hospital Papers

No abstract provided.

Epidural Hematoma Risks Associated With Ceasing Vs. Maintaining Anticoagulant And/Or Antiplatelet Medications For Cervical And Thoracic Interlaminar Epidural Steroid Injections, Michael Furman, Jesse Bernstein, Lelia Gilhool, Christopher Bednarek, Holden Caplan, Ajay Kurup, Byron Schneider

SKMC Student Presentations and Publications

Background: There is a lack of substantiated evidence to support or refute the risks of ceasing vs maintaining anticoagulant and/or antiplatelet medications (ACAP) prior to cervical and thoracic interlaminar epidural steroid injections. The ACAP medication is frequently stopped pre-procedure due to concerns for potential bleeding complications, particularly epidural hematomas (EH). This article provides evidence regarding EH incidence in this population. Methods: Data for this study was collected retrospectively on all patients from September 19, 2009–Jun 16, 2017 who were scheduled for an Interlaminar Cervical and/or Thoracic Epidural Steroid Injections (IL-CTESI) and were on an ACAP medication at the time a …

Forensic Evaluation Of A Single Episode Of A Disorder Of Arousal In A Sleepwalking Defense: Cognitive Function Versus Prior Clinical History, Mark R. Pressman

Department of Medicine Faculty Papers

Introduction

The clinical diagnosis of disorders of arousal (DOA) is based primarily on a clinical history including amnesia for episodes. The presence of amnesia means the patient cannot provide direct evidence. In a forensic setting, when the defendant has been charged criminally with violent actions or sexual related assaults allegedly during sleep, a sleepwalking defense may be presented. As opposed to clinical history, the prosecution generally focuses on the single episode of alleged DOA that resulted in the criminal charges against the defendant. The prosecution will argue that this episode of complex behavior was not consistent with a DOA. A …

Is Β-Lactamase Testing Acceptably Accurate For Predicting Haemophilus Influenzae Susceptibility To Β-Lactams? Epidemiological Data From Philadelphia, Usa, 2017–2023, Arianna B. Morton, Chairut Vareechon, Matthew A. Pettengill

Department of Pathology, Anatomy, and Cell Biology Faculty Papers

No abstract provided.

Conditional Risks Of Biochemical Failure And Prostate Cancer-Specific Death In Patients Undergoing External Beam Radiotherapy: A Secondary Analysis Of 2 Randomized Clinical Trials, Gregory S. Alexander, Rebecca F Krc, James W Assif, Kai Sun, Jason K Molitoris, Phuoc Tran, Zaker Rana, Søren M Bentzen, Mark V Mishra

Department of Radiation Oncology Faculty Papers

IMPORTANCE: As patients achieve years of survival after treatment for prostate cancer, the risk of biochemical failure (BF) or prostate cancer-specific death (PCSD) may evolve over time, with clinical relevance to both patients and clinicians.

OBJECTIVE: To determine conditional BF-free survival, PSCD, and overall survival estimates for patients with low- or intermediate-risk prostate cancer enrolled in the Radiation Therapy Oncology Group (RTOG) 0126 and RTOG 0415 clinical trials. A secondary objective was to determine whether prognostic factors at diagnosis remain relevant at later points in follow-up.

DESIGN, SETTING, AND PARTICIPANTS: A pooled secondary analysis of patients treated with external-beam radiotherapy …

Objectivity, Practicality, And Significance Of Practice Guidelines For The Practicing Neurologists: What We Learnt From Consensus Criteria In Cidp, Myasthenia Gravis And Inflammatory Myopathies, Marinos C. Dalakas

Department of Neurology Faculty Papers

The value of practice guidelines in the three most common autoimmune neuromuscular disorders, namely Chronic Inflammatory Demyelinating Polyneuropathy (CIDP), Myasthenia Gravis (MG) and Autoimmune Inflammatory Myopathies (AIM), has been extensively debated regarding their usefulness in clinical practice, objectivity and universal value considering that guidelines are also established regionally in certain countries. This commentary highlights common concerns on how guidelines are presently generated, pointing out: (a) non-sufficient diversity among Task-Force members to identify and address not only routine clinical and electrophysiology issues but also immunology, imaging, pathology, biomarkers, epidemiology or treatment economics; (b) Task-Force being often comprised by the same or …

Uveal Melanoma Causing Iridodialysis: Tip Of The Iceberg, Deepthi E. Kurian, Konica Singla, Carol L. Shields

Wills Eye Hospital Papers

No abstract provided.

Prevention Of Maternal And Neonatal Death/Infections With A Single Oral Dose Of Azithromycin In Women In Labour In Low-Income And Middle-Income Countries (A-Plus): A Study Protocol For A Multinational, Randomised Placebo-Controlled Clinical Trial, Jennifer Hemingway-Foday, Alan Tita, Elwyn Chomba, Musaku Mwenechanya, Trecious Mweemba, Tracy Nolen, Adrien Lokangaka, Antoinette Tshefu Kitoto, Gustave Lomendje, Patricia L. Hibberd, Archana Patel, Prabir Kumar Das, Kunal Kurhe, Shivaprasad S Goudar, Avinash Kavi, Mrityunjay Metgud, Sarah Saleem, Shiyam S. Tikmani, Fabian Esamai, Paul Nyongesa, Amos Sagwe, Lester Figueroa, Manolo Mazariegos, Sk Masum Billah, Rashidul Haque, Md Shahjahan Siraj, Robert L. Goldenberg, Melissa Bauserman, Carl Bose, Edward A. Liechty, Osayame A. Ekhaguere, Nancy F. Krebs, Richard Derman, William A. Petri, Marion Koso-Thomas, Elizabeth Mcclure, Waldemar A. Carlo

Global Health Articles

INTRODUCTION: Maternal and neonatal infections are among the most frequent causes of maternal and neonatal mortality, and current antibiotic strategies have been ineffective in preventing many of these deaths. A randomised clinical trial conducted in a single site in The Gambia showed that treatment with an oral dose of 2 g azithromycin versus placebo for all women in labour reduced certain maternal and neonatal infections. However, it is unknown if this therapy reduces maternal and neonatal sepsis and mortality. In a large, multinational randomised trial, we will evaluate the impact of azithromycin given in labour to improve maternal and newborn …

Educational Case: Endometrial Ectopia In Endometriosis And Adenomyosis, Carolyn G. Chen, Joanna S.Y. Chan

Department of Pathology, Anatomy, and Cell Biology Faculty Papers

No abstract provided.

Sudden Vision Loss Heralding Covid-19-Associated Aspergillosis. Report Of 2 Cases, Tamara R. Vrabec, David R. Anderson, Priyal K. Shaw, Tatyana Milman

Wills Eye Hospital Papers

Purpose

To describe clinical, radiographic, laboratory and cytopathologic findings in 2 patients who developed vision loss due to endogenous aspergillus endophthalmitis during hospitalization for COVID-19 pneumonia.

Observations

Two unvaccinated sexagenarian male smokers lost vision within one month of contracting COVID-19 pneumonia. Initially, both received high dose steroids, nasal cannula oxygen and remdesivir. Immunomodulators tocilizumab or baricitinib were added during week 2 in case 1 and 2 respectively. Upon presentation after discharge from a post-COVID rehabilitation unit, visual acuities were light perception and hand motion. In both cases, inpatient blood and ocular fluid cultures were negative, serum 1,3-beta-D-glucan was positive, and …

Unilateral Acute Iris Transillumination Syndrome With Glaucoma And Iris Pigment Epithelium Dispersion Simulating Iris Melanoma, Orlando Gonzalez Martinez, Carol L. Shields, Jerry Shields, Patricia Chévez-Barrios, Debbie Rigney Walley, Ralph C. Eagle Jr., Tatyana Milman

Wills Eye Hospital Papers

Purpose

To report a patient with a unilateral presentation of glaucoma, pain, and acute iris transillumination syndrome simulating iris melanoma.

Observations

A 53-year-old male presented with blurred vision and pain in his right eye several weeks following a respiratory sinus infection managed by oral azithromycin. Examination of the right eye was notable for elevated intraocular pressure of 46 mm Hg, an irregular mid-dilated pupil, and diffuse iris transillumination with pigmentary seeding on the iris surface, in the anterior chamber angle, and on the sclera, suspicious for diffuse iris melanoma with glaucoma and extrascleral extension. Ultrasound biomicroscopy (UBM) of the right …

Systemic Anticancer Therapy And Thromboembolic Outcomes In Hospitalized Patients With Cancer And Covid-19, Shuchi Gulati, Chih-Yuan Hsu, Surbhi Shah, Pankil K. Shah, Rebecca Zon, Susan Alsamarai, Joy Awosika, Ziad El-Bakouny, Babar Bashir, Alicia Beeghly, Stephanie Berg, Daniel De-La-Rosa-Martinez, Deborah B. Doroshow, Pamela C. Egan, Joshua Fein, Daniel B. Flora, Christopher R. Friese, Ariel Fromowitz, Elizabeth A. Griffiths, Clara Hwang, Chinmay Jani, Monika Joshi, Hina Khan, Elizabeth J. Klein, Natalie Knox Heater, Vadim S. Koshkin, Daniel H. Kwon, Chris Labaki, Tahir Latif, Rana R. Mckay, Gayathri Nagaraj, Elizabeth S. Nakasone, Taylor Nonato, Hyma V. Polimera, Matthew Puc, Pedram Razavi, Erika Ruiz-Garcia, Renee Maria Saliby, Aditi Shastri, Sunny R.K. Singh, Vicky Tagalakis, Diana Vilar-Compte, Lisa B. Weissmann, Cy R. Wilkins, Trisha M. Wise-Draper, Michael T. Wotman, James J. Yoon, Sanjay Mishra, Petros Grivas, Yu Shyr, Jeremy L. Warner, Jean M. Connors, Dimpy P. Shah, Rachel P. Rosovsky

Kimmel Cancer Center Faculty Papers

IMPORTANCE: Systematic data on the association between anticancer therapies and thromboembolic events (TEEs) in patients with COVID-19 are lacking.

OBJECTIVE: To assess the association between anticancer therapy exposure within 3 months prior to COVID-19 and TEEs following COVID-19 diagnosis in patients with cancer.

DESIGN, SETTING, AND PARTICIPANTS: This registry-based retrospective cohort study included patients who were hospitalized and had active cancer and laboratory-confirmed SARS-CoV-2 infection. Data were accrued from March 2020 to December 2021 and analyzed from December 2021 to October 2022.

EXPOSURE: Treatments of interest (TOIs) (endocrine therapy, vascular endothelial growth factor inhibitors/tyrosine kinase inhibitors [VEGFis/TKIs], immunomodulators [IMiDs], immune …

Transmission Of Yellow Fever Vaccine Virus Through Blood Transfusion And Organ Transplantation In The Usa In 2021: Report Of An Investigation, Carolyn V. Gould, Rebecca J. Free, Julu Bhatnagar, Raymond A. Soto, Tricia L. Royer, Warren R. Maley, Sean Moss, Matthew A. Berk, Rebecca Craig-Shapiro, Rosy Priya L. Kodiyanplakkal, Lars F. Westblade, Thangamani Muthukumar, Yoram A. Puius, Amresh Raina, Azam Hadi, Kymberly A. Gyure, Danielle Trief, Marcus Pereira, Matthew J. Kuehnert, Vennus Ballen, Debra A. Kessler, Kimberly Dailey, Charles Omura, Thuy Doan, Steve Miller, Michael R. Wilson, Jennifer A. Lehman, Jana M. Ritter, Elizabeth Lee, Luciana Silva-Flannery, Sarah Reagan-Steiner, Jason O. Velez, Janeen J. Laven, Kelly A. Fitzpatrick, Amanda Panella, Emily H. Davis, Holly R. Hughes, Aaron C. Brault, Kirsten St George, Amy B. Dean, Joel Ackelsberg, Sridhar V. Basavaraju, Charles Y. Chiu, J. Erin Staples

Department of Medicine Faculty Papers

BACKGROUND: In 2021, four patients who had received solid organ transplants in the USA developed encephalitis beginning 2-6 weeks after transplantation from a common organ donor. We describe an investigation into the cause of encephalitis in these patients.

METHODS: From Nov 7, 2021, to Feb 24, 2022, we conducted a public health investigation involving 15 agencies and medical centres in the USA. We tested various specimens (blood, cerebrospinal fluid, intraocular fluid, serum, and tissues) from the organ donor and recipients by serology, RT-PCR, immunohistochemistry, metagenomic next-generation sequencing, and host gene expression, and conducted a traceback of blood transfusions received by …

Persistence To Anti-Cgrp Monoclonal Antibodies And Onabotulinumtoxina Among Patients With Migraine: A Retrospective Cohort Study, Larry Charleston, Brian Talon, Christine Sullivan, Carlton Anderson, Steven Kymes, Stephane A. Regnier, Seema Soni-Brahmbhatt, Stephanie J. Nahas

Department of Jefferson Headache Center Papers and Presentations

BACKGROUND: To date, real-world evidence on persistence to anti-calcitonin gene-related peptide (anti-CGRP) monoclonal antibodies (mAbs) or onabotulinumtoxinA have excluded eptinezumab. This retrospective cohort study was performed to compare treatment persistency among patients with migraine on anti-CGRP mAbs (erenumab, fremanezumab, galcanezumab, or eptinezumab) or onabotulinumtoxinA.

METHODS: This retrospective study used IQVIA PharmMetrics data. Adult patients with migraine treated with an anti-CGRP mAb or onabotulinumtoxinA who had 12 months of continuous insurance enrollment before starting treatment were included. A "most recent treatment episode" analysis was used in which the most recent episode was defined as the latest treatment period with the same …

Prevention Of Intradialytic Hypotension In Hemodialysis Patients: Current Challenges And Future Prospects, Seyed Mehrdad Hamrahian, Salem Vilayet, Johann Herberth, Tibor Fülöp

Division of Nephrology Faculty Papers

Intradialytic hypotension, defined as rapid decrease in systolic blood pressure of greater than or equal to 20 mmHg or in mean arterial pressure of greater than or equal to 10 mmHg that results in end-organ ischemia and requires countermeasures such as ultrafiltration reduction or saline infusion to increase blood pressure to improve patient’s symptoms, is a known complication of hemodialysis and is associated with several potential adverse outcomes. Its pathogenesis is complex and involves both patient-related factors such as age and comorbidities, as well as factors related to the dialysis prescription itself. Key factors include the need for volume removal …

Nivolumab And Ipilimumab In Combination With Radiotherapy In Patients With High-Risk Locally Advanced Squamous Cell Carcinoma Of The Head And Neck., Jennifer Johnson, Ioannis A. Vathiotis, Larry Harshyne, Ayesha Ali, Voichita Bar-Ad, Rita S. Axelrod, Emily Lorber, Joseph Curry, David Cognetti, Adam J. Luginbuhl, Madalina Tuluc, Scott W Keith, M.G. Mahoney, Athanassios Argiris

Department of Medical Oncology Faculty Papers

BACKGROUND: The combination of nivolumab and ipilimumab has been approved for the treatment of multiple solid tumors. This was a phase I study investigating definitive radioimmunotherapy (RIT) with nivolumab and ipilimumab for the treatment of locally advanced (LA) squamous cell carcinoma of the head and neck (SCCHN).

METHODS: Patients with newly diagnosed, stage IVA-IVB SCCHN eligible for cisplatin-based chemotherapy received nivolumab (3 mg/kg every 2 weeks for a total of 17 doses) and ipilimumab (1 mg/kg every 6 weeks for a total of 6 doses) starting 2 weeks prior to radiotherapy. The primary endpoint was safety of definitive RIT. Secondary …

Artificial Intelligence Frameworks To Detect And Investigate The Pathophysiology Of Spaceflight Associated Neuro-Ocular Syndrome (Sans), Joshua Ong, Ethan Waisberg, Mouayad Masalkhi, Sharif Amit Kamran, Kemper Lowry, Prithul Sarker, Nasif Zaman, Phani Paladugu, Alireza Tavakkoli, Andrew G Lee

Student Papers, Posters & Projects

Spaceflight associated neuro-ocular syndrome (SANS) is a unique phenomenon that has been observed in astronauts who have undergone long-duration spaceflight (LDSF). The syndrome is characterized by distinct imaging and clinical findings including optic disc edema, hyperopic refractive shift, posterior globe flattening, and choroidal folds. SANS serves a large barrier to planetary spaceflight such as a mission to Mars and has been noted by the National Aeronautics and Space Administration (NASA) as a high risk based on its likelihood to occur and its severity to human health and mission performance. While it is a large barrier to future spaceflight, the underlying …

Ifit2 Restricts Murine Coronavirus Spread To The Spinal Cord White Matter And Its Associated Myelin Pathology, Madhav Sharma, Debanjana Chakravarty, Afaq Hussain, Ajay Zalavadia, Amy Burrows, Patricia Rayman, Nikhil Sharma, Lawrence C. Kenyon, Cornelia Bergmann, Ganes C. Sen, Jayasri Das Sarma

Department of Pathology, Anatomy, and Cell Biology Faculty Papers

Interferon-induced protein with tetratricopeptide repeats 2, Ifit2, is critical in restricting neurotropic murine-β-coronavirus, RSA59 infection. RSA59 intracranial injection of Ifit2-deficient (-/-) compared to wild-type (WT) mice results in impaired acute microglial activation, reduced CX3CR1 expression, limited migration of peripheral lymphocytes into the brain, and impaired virus control followed by severe morbidity and mortality. While the protective role of Ifit2 is established for acute viral encephalitis, less is known about its influence during the chronic demyelinating phase of RSA59 infection. To understand this, RSA59 infected Ifit2-/- and Ifit2+/+ (WT) were observed for neuropathological outcomes at day 5 (acute phase) and 30 …

Genetics Of Functional Seizures; A Scoping Systematic Review, Ali A. Asadi-Pooya, Mark Hallett, Nafiseh Mirzaei Damabi, Khatereh Fazelian Dehkordi

Department of Neurology Faculty Papers

Background: Evidence on the genetics of functional seizures is scarce, and the purpose of the current scoping systematic review is to examine the existing evidence and propose how to advance the field.

Methods: Web of science and MEDLINE were searched, from their initiation until May 2023. The following key words were used: functional neurological disorder(s), psychogenic neurological disorder(s), functional movement disorder(s), psychogenic movement disorder(s), functional seizures(s), psychogenic seizure(s), nonepileptic seizure(s), dissociative seizure(s), or psychogenic nonepileptic seizure(s), AND, gene, genetic(s), polymorphism, genome, epigenetics, copy number variant, copy number variation(s), whole exome sequencing, or next-generation sequencing.

Results: We identified three original studies. …

Abaloparatide Maintains Normal Rat Blood Calcium Level In Part Via 1,25-Dihydroxyvitamin D/Osteocalcin Signaling Pathway, Yanmei Yang, Wei-Ju Louis Tseng, Bin Wang

Center for Translational Medicine Faculty Papers

The PTH-related peptide(1-34) analog, abaloparatide (ABL), is the second anabolic drug available for the treatment of osteoporosis. Previous research demonstrated that ABL had a potent anabolic effect but caused hypercalcemia at a significantly lower rate. However, the mechanism by which ABL maintains the stability of blood calcium levels remains poorly understood. Our in vivo data showed that ABL treatment (40 µg/kg/day for 7 days) significantly increased rat blood level of 1,25-dihydroxyvitamin D [1,25-(OH)2D] without raising the blood calcium value. ABL also significantly augmented the carboxylated osteocalcin (Gla-Ocn) in the blood and bone that is synthesized by osteoblasts, and increased noncarboxylated …

Preclinical Evaluation Of Anti-Cd38 Therapy In Mature T-Cell Neoplasms, Colleen Isabelle, William Johnson, Kathleen Mcconnell, Ashley Vogel, Jonathan Brammer, Amy Boles, Robyn Keller, Paola Sindaco, Liam Nisenfeld, Guldeep Uppal, Neda Nikbakht, Bruno Calabretta, Patrizia Porazzi, Jerald Gong, Nitin Chakravarti, Pierluigi Porcu, Anjali Mishra

Kimmel Cancer Center Faculty Papers

No abstract provided.

Identification Of Potential Non-Invasive Biomarkers In Diastrophic Dysplasia, Chiara Paganini, Ricki S. Carroll, Chiara Gramegna Tota, Andrea J. Schelhaas, Alessandra Leone, Angela L. Duker, David A. O'Connell, Ryan F. Coghlan, Brian Johnstone, Carlos R. Ferreira, Sabrina Peressini, Riccardo Albertini, Antonella Forlino, Luisa Bonafé, Ana Belinda Campos-Xavier, Andrea Superti-Furga, Andreas Zankl, Antonio Rossi, Michael B. Bober

Student Papers, Posters & Projects

Diastrophic dysplasia (DTD) is a recessive chondrodysplasia caused by pathogenic variants in the SLC26A2 gene encoding for a cell membrane sulfate/chloride antiporter crucial for sulfate uptake and glycosaminoglycan (GAG) sulfation. Research on a DTD animal model has suggested possible pharmacological treatment approaches. In view of future clinical trials, the identification of non-invasive biomarkers is crucial to assess the efficacy of treatments. Urinary GAG composition has been analyzed in several metabolic disorders including mucopolysaccharidoses. Moreover, the N-terminal fragment of collagen X, known as collagen X marker (CXM), is considered a real-time marker of endochondral ossification and growth velocity and was studied …

Opportunistic Detection Of Type 2 Diabetes Using Deep Learning From Frontal Chest Radiographs, Ayis Pyrros, Stephen M. Borstelmann, Ramana Mantravadi, Zachary Zaiman, Kaesha Thomas, Brandon Price, Eugene Greenstein, Nasir Siddiqui, Melinda Willis, Ihar Shulhan, John Hines-Shah, Jeanne M. Horowitz, Paul Nikolaidis, Matthew P. Lungren, Jorge Mario Rodríguez-Fernández, Judy Wawira Gichoya, Sanmi Koyejo, Adam E. Flanders, Nishith Khandwala, Amit Gupta, John W. Garrett, Joseph Paul Cohen, Brian T. Layden, Perry J. Pickhardt, William Galanter

Department of Radiology Faculty Papers

Deep learning (DL) models can harness electronic health records (EHRs) to predict diseases and extract radiologic findings for diagnosis. With ambulatory chest radiographs (CXRs) frequently ordered, we investigated detecting type 2 diabetes (T2D) by combining radiographic and EHR data using a DL model. Our model, developed from 271,065 CXRs and 160,244 patients, was tested on a prospective dataset of 9,943 CXRs. Here we show the model effectively detected T2D with a ROC AUC of 0.84 and a 16% prevalence. The algorithm flagged 1,381 cases (14%) as suspicious for T2D. External validation at a distinct institution yielded a ROC AUC of …