Diseases Commons^™

The Right Kind Of Rarefaction: Coronary Microvascular Remodeling In Right Ventricle Failure, Cyrus Vahdatpour, Katharine Clapham, Steven M. Kawut, Kirk Jones, John J. Ryan, Danielle Petty, Shannon Talbot, Kimberly Dumoff, Ellen C. Keeley, Priti Lal, Andrew J. Bryant, Alex M. Parker, Jeremy A. Mazurek, Leonid Mirson, Andrew Murphy, Andrew Baird, Megan Schwietert, Alissa F. Schurr, Andrew Stein, Scott M. Hansen, Zhining Ou, Angela P. Presson, Dylan Miller

Department of Pathology, Anatomy, and Cell Biology Faculty Papers

BACKGROUND: Right ventricular failure (RVF) is the primary determinant of outcomes in pulmonary hypertension (PH). Coronary microvascular dysfunction (CMD), defined by capillary rarefaction and endothelial dysfunction, may contribute to RVF but remains poorly characterized. CMD, defined by capillary rarefaction and endothelial dysfunction, may contribute to RVF through impaired myocardial oxygen delivery and fibrotic remodeling.

OBJECTIVES: To characterize right ventricle (RV) CMD and myocardial fibrosis in explanted human hearts and examine associations with echocardiographic and hemodynamic indices of RVF across PH subtypes.

METHODS: We retrospectively analyzed 57 adult patients who underwent orthotopic heart transplantation at 3 institutions (2023-2024). Explanted hearts were …

Dual-Level Pattern Tree For Visual Field Improves Glaucoma Progression And Polygenic Risk Prediction, Luo Song, Lucy Q. Shen, Louis R. Pasquale, Michael V. Boland, Sarah R. Wellik, Carlos Gustavo De Moraes, Ayellet Segre, Janey L. Wiggs, Constance Turman, Jonathan S. Myers, Tobias Elze, Nazlee Zebardast, David S. Friedman, Jae H. Kang, Mengyu Wang

Wills Eye Hospital Papers

PURPOSE: To develop a dual-level pattern tree to characterize visual field (VF) loss subtypes that can be used to better predict glaucoma progression and glaucoma polygenic risk scores (PRSs).

METHODS: This study included 113,030 patients from three datasets, each used for a specific purpose: (1) model training, (2) progression forecasting, and (3) PRS correlations. We applied archetypal analysis to cluster 24-2 VFs into trunk patterns and their branch patterns. The Cox regression model was used to forecast VF progression using mean deviation (MD) slope, MD-fast slope, total deviation (TD) pointwise slope, and visual field index (VFI) slope. Multivariable regression analyses …

An Art Of Port Wine Birthmark - A Case Report On Type Ii Sturge Weber Syndrome, Dr Sushmitha S, Dr Aravind Warrier S, Dr Dhivya Bharathi

Chulalongkorn Medical Journal

Sturge Weber Syndrome is a Phakomatoses group of neurocutaneous disorders. They manifest in the dermal, neural, ocular, and oral regions due to a mutation in the GNAQ gene. These lesions often are unilateral following the course of the trigeminal nerve.Here we present a case of 54-year-old woman with a history of glaucoma with a unilateral reddish-purple discoloration of the palate and a port-wine stain limited to the left side of her face. The clinical course of Sturge-Weber syndrome is quite complex and necessitates a multidisciplinary approach. In type 2 cases of Sturge-Weber syndrome, patients present with facial angiomas and glaucoma, …

Single-Cell Transcriptomic Analysis Of Peripheral Blood Mononuclear Cells Reveals Key Immune Responses In St-Segment Elevation Myocardial Infarction, Zheng Zhang, Shengfang Wang, Yahui Liu, Gaohan Li, Qianqian Cheng, Wei Yang, Gan-Xin Yan, Chuanyu Gao

Department of Medicine Faculty Papers

BACKGROUND: Inflammation plays a crucial role in the pathogenesis of ST-segment elevation myocardial infarction (STEMI). However, the precise immunological mechanisms remain incompletely understood. Single-cell RNA sequencing (scRNA-seq) provides a powerful approach to dissect immune cell heterogeneity and dynamic changes at single-cell resolution.

METHODS: Peripheral blood mononuclear cells (PBMCs) were collected from 7 STEMI patients (within 6h after primary percutaneous coronary intervention) and 3 healthy controls. Single-cell suspensions were prepared and subjected to scRNA-seq using the 10x Genomics Chromium platform and Illumina NovaSeq 6000. Data were processed using Cell Ranger and analyzed with Seurat for quality control, clustering, and annotation. Differentially …

Bilateral Endogenous Fungal Endophthalmitis Following Elective Surgical Abortion: A Single Center Case Series, Viet Q. Chau, Jesse D. Sengillo, Flavius A. Beca, Julia L. Hudson, Thomas A. Albini, Harry W. Flynn

Wills Eye Hospital Papers

BACKGROUND: To describe the clinical features and management of three cases of bilateral endogenous fungal endophthalmitis following elective surgical abortion performed at the same outpatient surgical center.

METHODS: Case series.

OBSERVATIONS: Three immunocompetent women presented with vision loss days to weeks following elective surgical abortions performed at a single outpatient clinic. Initial visual acuities ranged from 20/20 to 20/300. Fundoscopic examination revealed multiple white round chorioretinal lesions with vitreous infiltration bilaterally in all three patients. Vitreous tap samples were obtained for culture and broad-spectrum intravitreal antimicrobials were administered. Despite negative cultures and systemic workup, the clinical presentation was consistent with …

Factfinders For Patient Safety: Minimizing Complications In Radiofrequency Neurotomy: Part I-Implantable Devices; Part Ii-Preprocedural Bvnrfn Imaging, David Hao, Gerald Yeung, Haewon Lee, Zheyan Chen, Ben Laplante, Paul Kitei, Reza Ehsanian, David Levi

Moss-Magee Rehabilitation Papers

This series of FactFinders presents a brief summary of the evidence and outlines recommendations regarding minimizing risks with radiofrequency neurotomy procedures. The evidence in support of the following facts is presented: (1) While data on the safety of radiofrequency neurotomy in patients with implanted devices are limited, the procedure can likely be performed safely with careful adherence to best practices and manufacturer recommendations. (2) Basivertebral nerve radiofrequency neurotomy can be performed safely and effectively at the L3 through S1 vertebral levels. Scrutiny of preprocedural imaging may minimize risk. Although the transpedicular approach is preferred, patient anatomy may dictate a non-transpedicular …

Liver-Directed Base Editing Of Abcc6 Prevents Ectopic Calcification In A Variant-Humanized Mouse Model Of Pseudoxanthoma Elasticum, Lauren C. Testa, Dora Obiri-Yeboah, Hooda Said, Ping Qu, Michael A. Levine, Mohamad-Gabriel Alameh, Kiran Musunuru, Qiaoli Li, Xiao Wang

Department of Biochemistry and Molecular Biology Faculty Papers

Pseudoxanthoma elasticum (PXE) is an autosomal recessive connective tissue disorder characterized by ectopic calcification of elastic fibers throughout the skin, retina, and arteries. It is caused by pathogenic variants in ABCC6 , which encodes a transmembrane transporter that primarily localizes to hepatocytes. Loss of ABCC6 function in hepatocytes leads to systemic deficiency of inorganic pyrophosphate (PPi), a potent inhibitor of calcification; such depletion of PPi from the circulation is responsible for multisystemic ectopic calcification seen in PXE. Therefore, liver-targeted variant correction by genome editing and subsequent restoration of systemic PPi may offer a one-and-done therapeutic approach for PXE. The ABCC6 …

Hypertensive Remodelling: When Bigger Body Means Bigger Problems, Eric Lazartigues

School of Medicine Faculty Publications

No abstract provided.

Promising Effects Of Car T-Cell Therapy In Refractory Stiff Person Syndrome And A Hopeful Future For All Neuroautoimmunities, Marinos Dalakas

Department of Neurology Faculty Papers

Chimeric antigen receptor (CAR) T cells are genetically modified T cells expressing CARs, initially developed to recognize tumor antigens and kill cancer cells that evade T-cell recognition. Because of their impressive success in hemato-oncologic malignancies, CAR T cells are being repurposed with redesigned constructs for safety and sustained efficacy to target refractory systemic autoimmune or neurologic diseases. The CD19 CAR T cells-targeting those CD19-positive, antibody-secreting, long-lived plasma cells, and plasmablasts-are now extensively explored in refractory neuroautoimmunities with promising benefits based on case series in patients with myasthenia gravis (MG), stiff person syndrome (SPS), neuromyelitis, myositis, and multiple sclerosis; some patients …

Estrogen And Obesity Synergistically Suppress Protein S Via Hif1Α, Enhancing Thrombosis Potential, Mohammad A. Mohammad, Narender Kumar, Sonali Ghosh, Ashley L. Paysse, Claudia Leonardi, Vijaya Pilli, Ma Lorena Duhaylungsod, Eric Lazartigues, Diana Polania-Villanueva, Sadaf Nouman, Logan A. Barrios, Rima Chattopadhyay, Rafika Yasmin, Alaina Guilbeau, Manoj Kumar, Tina H. Nguyen, Jovanny Zabaleta, Li Li, Luis Del Valle M.D., Mallory T. Barbier, Samarpan Majumder, Laurent O. Mosnier, Samarpan Majumder

School of Graduate Studies Faculty Publications

Venous thromboembolism (VTE) is a leading cause of morbidity and mortality, with risk heightened in premenopausal women with obesity or use estrogen-based oral contraceptives. When both risk factors are present, the thrombosis risk increases substantially. Protein S (PS), an essential anticoagulant cofactor, is downregulated by both estrogen and obesity, but the molecular basis for this suppression remains poorly defined. We investigated the effect of estrogen and obesity on PS expression using plasma samples from 157 women stratified by BMI and contraceptive use, alongside 40 mice categorized as lean or obese with or without estrogen pellet treatment. The levels of PS …

Severe Myocarditis In The Pediatric Patient: A Simulation For Emergency Department Management, Prayerna Uppal, Anita Thomas, Robyn Wing, Lauren Kinneman, Cassandra Koid Jia Shin, Daisy Ciener, Jean I. Pearce, Claire Smith, Jennifer Reid, Kimberly Stone, Katina Summerford, Katherine Wolpert

School of Medicine Faculty Publications

Myocarditis in a pediatric patient can present with a variety of signs and symptoms, leading to a broad differential diagnosis. Delays in the correct identification of myocarditis and the initiation of appropriate interventions can have a detrimental impact on patient outcomes. In this case, a simulated five-year-old patient with myocarditis and secondary cardiogenic shock presents to the emergency department (ED). The goals of this simulation curriculum were to familiarize trainees and ED providers with the often nonspecific presentation of pediatric myocarditis, educate the care team about crucial interventions that positively or negatively impact the patient's stabilization course, and reinforce the …

Development Of A Clinically Relevant Rabbit Model Of Acute Laryngeal Injury, Ryan Stepp, Naushin Ali, Areli A. Rodriguez, Ethan Nicklow, Noah Thornton, Adithya Reddy, Hannah L. Kenny, Patrick S. Cottler, Donald R. Griffin, James J. Daniero

Department of Otolaryngology - Head and Neck Surgery Faculty Papers

OBJECTIVES: Acute laryngeal injury (ALgI) is created as a result of endotracheal tube pressure ulcer formation leading to fibrosis and inflammation. This condition often leads to airway obstruction and voice and swallowing dysfunction. This study demonstrates a reliable animal model of ALgI to reproduce the acute wound process seen clinically, to explore the pathophysiology of this disease process, and to serve as a reproducible injury suitable for the evaluation of therapeutic interventions.

METHODS: An ALgI model was developed in New Zealand White rabbits using precise mucosal stripping of the posterior larynx, followed by intubation with an oversized 4.0 endotracheal tube …

Outcomes Of Relapse After Teclistamab Therapy In Multiple Myeloma, Kyle L. Yu, Matthew Ho, Luca Paruzzo, Federico Stella, Heta Patel, Zainul S Hasanali, Shivani Kapur, Adam J. Waxman, Dan T. Vogl, Edward A. Stadtmauer, Joseph A. Fraietta, Marco Ruella, Adam D. Cohen, Alfred L. Garfall, Sandra Susanibar-Adaniya

Student Papers, Posters & Projects

No abstract provided.

Genomic Profiling Of Intraocular Leiomyomas Reveals Recurrent Copy Number Alterations, Vivian Tang, Yubai Chou, Cuyan Demirkesen, Michele M. Bloomer, Joseph B. Crawford, Ahmet M. Sarici, Carol L. Shields, Ralph C. Eagle Jr., Codrin E. Iacob, Walter P. Devine, Tatyana Milman, Melike Pekmezci

Wills Eye Hospital Papers

PURPOSE: Leiomyomas are benign smooth muscle tumors that commonly present in the uterus, soft tissue, skin, and gastrointestinal tract but in rare cases can also arise within the eye. Notably, intraocular leiomyomas often show slightly different histopathologic and immunohistochemical features, referred to as mesectodermal morphology, given their presumed neural crest origin. Genetic and cytogenetic alterations of intraocular leiomyomas, as well as their association with various clinical and histopathologic features, have not been previously studied.

METHODS: We identified eight patients diagnosed with intraocular leiomyoma and performed targeted next-generation sequencing, whole transcriptome RNA sequencing, and chromosomal copy number analysis on those with …

Induction Of Myelopoiesis By Candida Dubliniensis Drives Protective Trained Immunity Against Sepsis In A Card9-Dependent Manner, Shannon Esher Righi, Elizabeth A. Lilly, Amanda J. Harriett, Patrick W. Daly, Maryjane Jones, Chad Steele, Mairi C. Noverr, Paul L. Fidel

School of Dentistry Faculty Publications

Trained immunity is a long-term functional reprogramming of innate cells that allows for the formation of immune memory akin to adaptive responses, but with a more rapid nonspecific response. We recently identified an anti-inflammatory trained immunity response, termed trained tolerogenic immunity (TTI), induced by low virulence Candida dubliniensis, that protects against acute lethal polymicrobial sepsis via myeloid-derived suppressor cells (MDSCs). Trained immunity and MDSCs arise following hematopoietic stem and progenitor cell (HSPC) expansion in the bone marrow. Here, we show that C. dubliniensis induces inoculum-dependent protection and HSPC expansion, whereas depletion of HSPCs following C. dubliniensis immunization abrogates protection. We …

Assessing The Cardiac Safety Of A Multimodal Protocol For 'Tranq Dope' Withdrawal: A Retrospective Qtc Analysis, Kory London, Emily Deschler, Sabrina Butt, Steven Graver, Jake Figaniak, Nathan Hersh, Ariana Rucker, Bogdan Popa, Jenna Hoopes, Jennifer Kahoud, Behzad Pavri

Department of Emergency Medicine Faculty Papers

BACKGROUND: "Tranq dope"-fentanyl adulterated with xylazine-has complicated the management of opioid withdrawal in emergency departments (EDs). A novel withdrawal protocol was implemented to address these challenges, utilizing concurrent agents to intentionally synergize and potentiate effects. Questions remain about the safety of its components, some of which may prolong the QT interval.

METHODS: We conducted a retrospective cohort study of adult ED patients with suspected fentanyl/xylazine exposure treated utilizing novel protocol across two urban hospitals in Philadelphia, PA between September 2022 and October 2024. Patients with both pre- and post-treatment electrocardiograms (ECGs) were included. QTc intervals were reviewed by an experienced …

Discriminative Accuracy Of Cha2ds2-Vasc Score, And Development Of Predictive Accuracy Model Using Machine Learning For Ischemic Stroke Risk In Cardiac Amyloidosis And Atrial Fibrillation, Waqas Ullah, Abhinav Nair, Eric Warner, Salman Zahid, Mansoor Rahman, Palwasha Khan, Indranee Rajapreyar, Sridhara S. Yaddanapudi, M. Chadi Alraies, Said Ashraf, Jeffery Van Hook, Yegeny Brailovsky

Department of Medicine Faculty Papers

BACKGROUND: CHA2DS2-VASc score in cardiac amyloidosis (CA) with atrial fibrillation (AF) is believed to underestimate ischemic stroke risk, necessitating a better predictive model.

METHODS: Data were obtained from the National Readmission Database (NRD). Outcomes between CA-AF and no-CA-AF were compared using multivariate regression analysis to calculate adjusted odds ratios (aORs). AutoScore, an interpretable machine learning framework, was used to develop a stroke risk prediction model, and its predictive accuracy was evaluated with an area under the curve (AUC) using the receiver operating characteristic analysis.

RESULTS: A total of 11,860,804 (CA-AF 22,687 (0.19%) and no-CA-AF 11,838,117) patients were identified from 2015 …

The Importance Of Treating Migraine Attacks Early - Even In Youth: A Real-World Argument For Neuromodulation, Mario F. P. Peres, Hsiangkuo Yuan, Cristina Tassorelli

Department of Jefferson Headache Center Papers and Presentations

No abstract provided.

Septic Arthritis And Abscess Of The Temporomandibular Joint, Frank Rizzuto, Abdul Khan, Jagan D. Gupta, Neel D. Gupta, Triet M. Do, Enrique Palacios

School of Medicine Faculty Publications

No abstract provided.

Comparison Of Anterior And Posterior Surgical Approaches For Cervical Ossification Of The Posterior Longitudinal Ligament Stratified By Spinal Levels: A Systematic Review And Meta-Analysis, Seyed Danial Alizadeh, Sepehr Khosravi, Farzin Farahbakhsh, Vali Baigi, Moein Khormali, Mohsen Hajiqasemi, Zahra Eskandari, Mahgol Sadat Hassan Zadeh Tabatabaei, Amirmahdi Khayyamfar, Mohammad-Rasoul Jalalifar, Sepehr Armaghan, Masoud Pourghahramani Koltapeh, Zahra Ghodsi, Michael G. Fehlings, Alex R. Vaccaro, Vafa Rahimi-Movaghar

Rothman Institute Papers

OBJECTIVE: To compare the outcomes of anterior and posterior surgical approaches for treating cervical ossification of the posterior longitudinal ligament across multiple spinal levels, including 1-2 spinal levels, ≥ 3 levels, or studies that operated on both spinal levels, called mixed spinal levels.

METHODS: A search strategy using pertinent keywords was employed in the MEDLINE, Embase, Scopus, and Web of Science databases. Data on Modified Japanese Orthopaedic Association (mJOA) scores, radiographic outcomes, and complications were extracted. A random-effects meta-analysis, subgroup meta-analysis, and sensitivity analysis were performed.

RESULTS: Among 13 included studies, the anterior approach was statistically associated with improved C2-C7 …

A Case Of Granuloma Annulare Mimicking Candidal Intertrigo In The Groin, Scotty Smith, Patrice Perche, Leonard Gately

School of Medicine Faculty Publications

Granuloma annulare (GA) is a benign, non-infectious granulomatous skin condition of uncertain etiology, often presenting as annular erythematous plaques. While commonly localized to the hands and feet, GA has multiple clinical variants and can mimic other dermatologic conditions, leading to diagnostic challenges. We report a rare case of GA localized to the inguinal region in a 55-year-old female initially treated empirically for candidal intertrigo without improvement. Biopsy demonstrated interstitial histiocytic infiltrates dissecting between collagen bundles with increased dermal mucin, confirming a diagnosis of interstitial GA. The patient was subsequently treated with triamcinolone 0.1% ointment and hydroxychloroquine 200 mg twice daily …

Methemoglobinemia-Induced Cardiac Dysfunction In A Pediatric Patient, Brian Drury, Chelsea Boyd, Kelsey Van Housen, Siraj Amanullah

Student Papers, Posters & Projects

Methemoglobinemia is a rare congenital or acquired cause of functional anemia resulting from oxidation of hemoglobin. Prompt recognition and treatment are critical to prevent tissue hypoxia and end-organ injury. While other complications are well described, cardiac dysfunction is rarely reported—especially in children. We present what, to our knowledge, is the first known case of methemoglobinemia-induced transient cardiac dysfunction—or “myocardial stunning— in a pediatric patient. This case underscores the importance of maintaining a high index of suspicion and assessing cardiac involvement in such patients. Early intervention can lead to full recovery and prevent long-term sequelae, even in the presence of multiorgan …

International Headache Society Evidence-Based Guidelines On The Use Of Non-Invasive Neuromodulation Devices For The Acute And Preventive Treatment Of Migraine, Hsiangkuo Yuan, Serena L. Orr, Mohammad A. M. Al-Karagholi, Messoud Ashina, Fred Cohen, Hans-Christoph Diener, David W. Dodick, Rigmor Højland Jensen, Michael J. Marmura, Daniele Martinelli, Manjit S. Matharu, Anja S. Petersen, Patricia Pozo-Rosich, Simona Sacco, Lucy Simmonds, Cristina Tassorelli, Stewart J. Tepper, Gisela M. Terwindt, Shuu-Jiun Wang, Jiunn-Tyng Yeh, Stephen D. Silberstein

Department of Jefferson Headache Center Papers and Presentations

ObjectiveTo develop evidence-based clinical practice guidelines for non-invasive neuromodulation devices in acute and preventive migraine treatment.MethodsA systematic review was conducted across six databases from 1946 to April 2025. Randomized controlled trials evaluating Food and Drug Administration-cleared or Conformité Européenne (CE)-marked non-invasive neuromodulation devices were included. The quality of evidence was assessed using the Grading of Recommendations Assessment, Development, and Evaluation (GRADE) methodology, and recommendations were developed through consensus following GRADE Evidence-to-Decision frameworks. The working group comprised 15 senior members and six junior members.ResultsFrom 1536 initial records, 15 studies met the inclusion criteria and were finally used to develop evidence-based recommendations. …

Migraine-Related Disability According To Headache Frequency Subclassifications: A Systematic Review And Meta-Analysis, Manjit Singh Matharu, Stephen Silberstein, Hsiangkuo Yuan, Deborah Edgar, Roos Colman, Todd Schwedt, Michel Lanteri-Minet, Mark Obermann

Department of Jefferson Headache Center Papers and Presentations

BackgroundThis systematic review and meta-analysis synthesized migraine-related disability outcomes according to headache frequency subclassifications, including low-frequency episodic migraine (LFEM), high-frequency episodic migraine (HFEM) and chronic migraine (CM).MethodsWe searched the PubMed and Cochrane Library (CENTRAL) up to 16 October 2024 for peer-reviewed non-interventional studies reporting migraine-related disability outcomes in CM and subclassifications of episodic migraine (e.g. LFEM and HFEM). Eligible studies with an HFEM subgroup were grouped by headache frequency measure (monthly migraine days [MMD] or monthly headache days [MHD]), HFEM subgroup, disability parameter and study setting. Random-effects meta-analyses were conducted on groups with three or more studies, with the results …

What Community Members With Chronic Illness Teach Future Healthcare Professionals In A Longitudinal Interprofessional Education Program: A Focus Group Study, Rachel White, Maria Brucato, Amber King, Anne B. Mitchell, Nethra S. Ankam

Department of Medicine Faculty Papers

INTRODUCTION: Nearly 50% of Americans have at least one chronic illness. Preparing future healthcare providers for interprofessional collaborative practice (IPCP) and person-centred care through community-based interprofessional education (IPE) can improve outcomes for this growing population. Partial programme theories predict that patients' participation as teachers in health professions education contributes to students' development of patient-centredness. Role theory asserts that behaviours are shaped by assigned roles; therefore, community members with chronic illness who assume roles of health mentors in an IPE curriculum are predicted to teach students about their patient experiences. Yet, this teaching outcome and the lessons health mentors teach in …

A Case-Based Video Review Of Arteriovenous Fistulae, Jonathan J. Russin, Stavropoula Tjoumakaris, Mika Niemela, Erez Nossek, Jeffrey Steinberg, Sepideh Amin-Hanjani

Department of Neurosurgery Faculty Papers

No abstract provided.

Ketorolac Use Following Operative Clavicle Fracture Fixation Is Not Associated With Increased Nonunion Or Surgical Complications: A Propensity-Matched Analysis, Tuckerman Jones, Tej Joshi, Akhil Katakam, Daniella Ogilvie, Sefy Paulose, Balazs Galdi

Wills Eye Hospital Papers

OBJECTIVES: Nonsteroidal anti-inflammatory drugs (NSAIDs), including ketorolac, are commonly used for postoperative pain management. Concerns about their potential impact on bone healing have been raised. This study investigated the relationship between ketorolac use and postoperative complications following clavicle surgery, including nonunion rates.

METHODS: This retrospective cohort study used the TriNetX Research Database to identify patients who underwent surgical fixation of clavicle fractures between 2002 and 2022. Two propensity-matched cohorts were created: patients who received postoperative ketorolac and those who did not. Primary outcomes included nonunion diagnosis and revision surgery; secondary outcomes included opioid use, wound disruption, surgical site infection, and …

Association Of Estimated Plasma Volume Status With Invasive Hemodynamics And Adverse Clinical Outcomes In Patients With Pulmonary Hypertension And Chronic Kidney Disease, Andrew Geller, Jose Manuel Martinez Manzano, Esteban Kosak Lopez, Phuuwadith Wattanachayakul, John Malin, Raul Leguizamon, Tara John, Rasha Khan, Ian Mclaren, Alexander Prendergast, Simone Jarrett, Kevin Bryan Lo, Christian Witzke

Einstein Health Papers

Identifying noninvasive measures to assess intravascular volume status and risk stratify patients with pulmonary hypertension (PH) and chronic kidney disease (CKD) is needed. We assessed the predictive value of estimated plasma volume status (ePVS) using the Strauss-derived Duarte formula in PH-CKD patients. This single-center retrospective cohort analysis included patients with PH and CKD Stage 3b (CKD3b), Stage 4 (CKD4), or Stage 5 (CKD5) who underwent right heart catheterization from 2018 to 2023. Patients were categorized into low ePVS (< 6.2) and high ePVS (≥ 6.2) using Youden's J statistics. We used the Cox-proportional hazards model, adjusting for age, sex, and body mass index, to investigate the association between …

Corticobasal Syndrome With Mixed Pathology In The Absence Of Grn Mutation: A Clinico-Pathological Case Of Ftld-Tdp With Coexisting Alzheimer’S And Lewy Body Pathology, Hugo Zamarron, David Irwin, Jeffery Phillips, Edward Lee, Matthew Tisdall, Corey Mcmillan

Research Colloquium

Background: Corticobasal syndrome (CBS) is a neurodegenerative disorder characterized by often asymmetric fronto-pariteal and extra-pyramidal features that is traditionally associated with tauopathy, but pathological findings are heterogenous, including other forms of frontotemporal lobar degeneration (FTLD) and mixed pathologies of aging. We present clinical, radiographic, and histopathologic features of asymmetry in a unique patient with CBS and underlying FTLD with TDP-43 pathology (FTLD-TDP), co-occurring with other age-related pathologies.

Case Presentation: A 76-year-old man presented with progressive cognitive and motor dysfunction including asymmetric parkinsonism, left-sided dystonia and rigidity, apraxia, visuospatial impairment, and a subtle social disorder including apathy and social withdrawal. The …

Medical Guidelines For Fibrodysplasia Ossificans Progressiva, Frederick S. Kaplan, Mona Al Mukaddam, Genevieve Baujat, Alberto Hidalgo Bravo, Matthew Brown, Amanda Cali, Tae-Joon Cho, Corrie Crowe, Carmen L. De Cunto, Patricia L. R. Delai, Robert J. Diecidue, Elisabeth Marelise W Eekhoff, Lisa Friedlander, Clive S. Friedman, Zvi Grunwald, Nobuhiko Haga, Edward C. Hsiao, Richard Keen, Joseph A. Kitterman, Charles Levy, Vrisha Madhuri, Rolf Morhart, J. Coen Netelenbos, Christiaan Scott, Eileen M. Shore, Michael Zasloff, Keqin Zhang, Robert J. Pignolo

Department of Oral and Maxillofacial Surgery Faculty Papers

Fibrodysplasia ossificans progressiva (FOP) is an ultra-rare genetic condition characterized by congenital malformations of the great toes and progressive heterotopic ossification (HO) in specific anatomic patterns. Present management summarized here is focused on early diagnosis, assiduous avoidance of injury and iatrogenic harm, symptomatic amelioration of painful flare-ups, and optimization of residual function. Twenty-one members of the International Clinical Council on FOP (ICC) and seven consultants from 15 countries, chosen for their clinical expertise in FOP, developed this summary statement. Further advances in therapeutics will be based on rigorous clinical trials to assess novel and emerging treatment and prevention strategies. A …