Medical Specialties Commons^™

In Situ Programming Of The Tumor Microenvironment To Alleviate Immunosuppression For Pancreatic Cancer Immunotherapy, Man Sun, Huan Zhang, Yarui Ma, Simiao Wang, Jiayi Chen, Yaxin Cui, Yun Zhang, Siyuan Hu, Dan Zhou, Pengchen Zhang, Yahui Liu, Betty Y S Kim, Wen Jiang, Xiaobing Wang, Zhaogang Yang

Faculty, Staff and Student Publications

Recent studies have highlighted the pivotal role of the cGAS‐STING pathway in cancer immunotherapy. However, clinical trials with cGAS‐STING pathway agonists have faced setbacks thanks to their short biological half‐life, lack of tumor specificity, and potential to promote tumor immune evasion. To address these challenges, a novel exosome‐based drug delivery platform, termed cmExoaCD11b is developed, designed to precisely target and reprogram the tumor microenvironment (TME) in situ for pancreatic cancer immunotherapy. cmExoaCD11b is engineered to encapsulate high copy numbers of IL‐12 mRNA and 2′3’‐cGAMP (cGAMP) and is functionalized with CD11b antibodies for targeted delivery to macrophages. Notably, cmExoaCD11b facilitated the …

Sex Disparities In Chlamydia And Gonorrhea Treatment In Us Adult Emergency Departments: A Systematic Review And Meta-Analysis, Rachel E Solnick, Rahi Patel, Ethan Chang, Carmen Vargas-Torres, Maaz Munawar, Carlin Pendell, Judith E Smith, Ethan Cowan, Keith E Kocher, Roland C Merchant

Faculty, Staff and Student Publications

BACKGROUND: Empiric antibiotic treatment for gonorrhea (GC) and chlamydia (CT) is common in U.S. emergency departments (EDs) due to the delayed availability of test results. Local studies have identified sex-based disparities in sexually transmitted infection (STI) care, with females potentially receiving less empiric treatment than males. This study evaluates how STI treatment aligns with laboratory-confirmed results to quantify potential overtreatment and undertreatment rates and investigates sex differences for these outcomes.

METHODS: We conducted a preregistered (PROSPERO #241429) systematic review and meta-analysis of studies published between January 2010 and January 2025 in U.S. EDs, excluding studies conducted exclusively in pediatric settings. …

Silent Damage, Early Signals: A Narrative Review Of The Evolving Role Of Cardiac Biomarkers In Oncology-Driven Cardiotoxicity, Aura Calderon, Luis Salcedo, Jose Loayza, Catherine Matos, Ivan Mogollon, Francisco Arias, Everardo Cobos

School of Medicine Publications

Advancements in cancer therapy have led to improved patient survival but have also introduced an increasing risk of cardiotoxicity, particularly with agents such as anthracyclines, trastuzumab, and various targeted treatments. Cardiotoxic effects may present as myocardial injury, systolic or diastolic dysfunction, or heart failure (HF), often developing insidiously before clinical symptoms become evident. Early detection is therefore crucial to preserve cardiovascular health in oncology patients. This narrative review examines the expanding role of cardiac biomarkers; including high-sensitivity troponins, natriuretic peptides, Galectin-3, soluble ST2, and novel molecular markers like microRNAs, in identifying and monitoring chemotherapy-induced cardiac injury. It also highlights how …

Reliability And Spatial Consistency Of Mr Diffusion Tensor Imaging Measures Along The Cerebral Perivascular Space, Enchao Qiu, Joga Chaganti, Phillip Phan, M. Alizadeh, Devon Middleton, Kiran Talekar, Prabath Mondel, Scott H. Faro, Feroze Mohamed, Hsiangkuo Yuan

Department of Radiology Faculty Papers

BACKGROUND AND PURPOSE: Diffusion tensor imaging analysis along the perivascular space (DTI-ALPS) has emerged as a promising noninvasive method for evaluating water motion that may reflect glymphatic system function. However, the reliability of DTI-ALPS measurements across different region-of-interest (ROI) selection methods remains underinvestigated. This study aimed to assess the interrater reliability among three neuroradiologists in native space and compare DTI-ALPS indices derived from ROIs placed in subjects' native space versus standardized Montreal Neurological Institute (MNI) space.

METHODS: DTI-ALPS indices from 16 healthy subjects were calculated from both left and right hemispheres using two ROI placement approaches: (1) native space ROIs …

Lumbar Microdiscectomy: A Rare Case Of A Duplicate L5 Exiting Nerve Root., Sahil Garg, Sean M Muir, Arianna K Gill, Komi E Afetse, Sanjitpal S Gill

Surgery Articles

The microdiscectomy procedure has been regarded as the preferred method for the treatment of lumbar disc herniation (LDH). Intraoperatively, the procedure may be further complicated due to underlying anatomical variations in the lumbar spine or nerve root variations. Nerve root anomalies (NRAs), in particular, are relatively underdiscussed within the literature. Despite the rarity of these variations to the exiting nerve root, the increased surgical risk that an NRA may add warrants the need for increased awareness and associated complication mitigation. This case describes a rare instance of a symptomatic duplicate L5 nerve root discovered preoperatively and highlights the steps taken …

Fractures In Parkinson's Disease: Pathophysiology, Prevention, And Orthopedic Outcomes., Ali Osman, Tala Maya, Rayyan Bhutta, Natasha Doshi, Maryam Khan, Sara Shah, Paslene Periceles, Janae Rasmussen

Surgery Articles

Fractures are an important comorbidity in Parkinson's disease (PD), which can result in disability, mortality, and high healthcare costs. Impaired mobility, postural instability, bradykinesia, muscle rigidity, and decreased bone mineral density (BMD) contribute to the increased risk of falls, which often result in hip and upper extremity fractures. Hip fractures in patients with PD are associated with an increased hospital length of stay and a decline in functional independence. Multimodal fall prevention in PD is well established, but prevention of fractures is often underutilized, despite evidence-based interventions. Information on fall-related fracture outcomes after exercise interventions is an area warranting further …

Airway Management In Patients With Vocal Cord Paralysis: A Review Of Intubation Techniques, Intraoperative Challenges, And Outcomes., Rayyan Bhutta, Ali Osman, Tala Maya, Justin Ma, Ali Al Saeed, Sumit Sidhu, Mariya Wood, Bilal Akhtar, Sirimas Lau, Matthias Franzen

Surgery Articles

Vocal cord paralysis (VCP) presents with unique challenges when managing airways, particularly during endotracheal intubation. This literature review explores the effects of unilateral and bilateral VCP on intubation technique, first-pass success, extubation safety, and perioperative airway planning. While video laryngoscopy (VL) is becoming increasingly favored for its superior airway visualization, it does not always confirm successful placement in patients with VCP. Complications such as airway edema, aspiration risk, and cuff misplacements are increased in this patient population, and they may be more vulnerable to post-extubation complications, especially without the use of steroid prophylaxis or intensive post-operative planning. A comparison of …

Clinical Uptake Of An Antigen-Based Approach To Membranous Nephropathy: A Survey Of General Nephrologists And Glomerular Disease Experts., Eibhlin Goggins, Andrew Delaat, Bryce Barr, Jonathan Taliercio, Ali Mehdi, Georges Nakhoul, Brendan Bowman, Corey Cavanaugh

Ambulatory and Primary Care Articles

BACKGROUND: In recent years, there has been an emergence of new antigens discovered in membranous nephropathy (MN). Whether these antigens have impacted the approach to, and management of, MN patients undertaken by nephrologists is still unclear.

METHODS: We conducted a cross-sectional international survey pertaining to 13 antigens recently discovered in MN. The survey was distributed by the National Kidney Foundation, direct emails, and social media.

RESULT: PLA2R, THSD7A, NELL1, and EXT1/2 testing were readily available while the most common response for other antigen testing was 'Not Performed' or 'Unknown'. All respondents had tested for or treated PLA2R-positive MN. Of 79 …

The Potential Of 4-Methylumbelliferone To Be Repurposed For Treating Liver Fibrosis, Xi Chen, Huiqiao Li, Yanru Deng, Jieyi Meng, Shangang Zhao, Clavia Ruth Wooton-Kee, Xia Gao, Bingning Dong, Dongyin Guan, Chaodong Wu, Philipp E Scherer, Yi Zhu

Faculty, Staff and Students Publications

4-Methylumbelliferone (4-MU) is the active component of hymecromone, a choleretic and antispasmodic drug with an excellent safety profile. In rodent studies, high doses of 4-MU are also used to inhibit the production of hyaluronan (HA), a biomarker of liver fibrosis. Further, 4-MU shows excellent efficacy in inhibiting liver fibrosis of different etiologies in animal studies, eliciting interest in its repurposing for this condition. However, 4-MU's mechanism of action, and whether it inhibits liver fibrosis by impeding HA synthesis remains unclear. Using several transgenic mouse models with HA overproduction or degradation in different types of liver cells, we found that both …

The Role Of Serum Phosphate Control In Supporting Transplant Readiness In Patients On Dialysis, Laura A Williams, Stephen Z Fadem

Faculty, Staff and Students Publications

Chronic kidney disease affects over 36 million Americans, with more than 800,000 progressing to end-stage kidney disease (ESKD). Treatment with kidney transplantation offers superior survival, quality of life, and cost-effectiveness compared with dialysis, yet access remains limited. Hyperphosphatemia is a highly prevalent and modifiable complication of ESKD that contributes to cardiovascular disease, mineral bone disorder, and potential pulmonary dysfunction. Additionally, elevated serum phosphate has been linked to transplant graft failure and adverse post-transplant outcomes. Although normal phosphate levels are not formally required for transplant eligibility, they are frequently considered as part of transplant readiness assessments. Persistent gaps between clinical guideline …

Steroids For Pediatric Adenotonsillectomy Pain-A Prospective Multicenter Randomized Trial, Kevin D Pereira, Wiktoria A Gocal, Anna V Borodianski, Mary E Williamson, Hengameh K Behzadpour, Sonal Saraiya, Diego A Preciado, Amal Isaiah

Faculty, Staff and Students Publications

Objective: To compare postoperative caregiver-reported pain control of two steroid regimens following pediatric adenotonsillectomy. Secondary objectives assessed differences in analgesic use, return to normal diet, caregiver calls, adverse effects, and emergency room (ER) visits.

Study design: Prospective randomized pragmatic trial.

Setting: Three academic tertiary care children's hospitals.

Methods: Healthy children aged 3 to 10 undergoing adenotonsillectomy were recruited and randomly assigned to receive either 0.6 mg/kg dexamethasone on postoperative day 3 or prednisolone 0.5 mg/kg days 1 to 3. Both groups continued standard weight-based regimens of acetaminophen and ibuprofen. A blinded research team member performed postoperative telephone surveys using the …

Validation Of An Assay For Ngal In A Pediatric Population, Nazmin Bithi, Ridwan B Ibrahim, Estella L Tam, Radwa Almamoun, Annette C Frenk Oquendo, Ayse Akcan-Arikan, Sridevi Devaraj

Faculty, Staff and Students Publications

Background and objectives: Acute kidney injury (AKI) poses a serious clinical challenge, particularly in high-risk environments, due to its association with increased morbidity and mortality. Traditional diagnostic markers, such as serum creatinine, often detect AKI only after significant kidney damage has occurred, limiting opportunities for early intervention. Neutrophil gelatinase-associated lipocalin (NGAL) has emerged as a promising early biomarker due to its rapid upregulation following kidney ischemia. NGAL supports renal recovery by reducing toxicity and promoting tubular regeneration via heme oxygenase-1 activity. This study aimed to validate the BioPorto ProNephro AKI™ turbidimetric immunoassay for urinary NGAL on the Ortho Vitros XT7600 …

Corrigendum To "Validation Of An Assay For Ngal In A Pediatric Population" [Practical Laboratory Medicine, Plabm 486, E00486], Nazmin Bithi, Ridwan B Ibrahim, Estella Tam, Radwa Almamoun, Annett C Frenk Oquendo, Ayse Akcan-Arikan, Sridevi Devaraj

Faculty, Staff and Students Publications

This corrects the article "Validation of an assay for NGAL in a pediatric population", e00486.

A Divergent Cyclic Nucleotide Binding Protein Promotes Plasmodium Ookinete Infection Of The Mosquito, Dominika Kwecka, Zhishuo Wang, Edvardas Eigminas, Lijia Liu, Jennifer C Regan, Choel Kim, Nisha Philip

Faculty, Staff and Students Publications

Colonisation of mosquitos by the malarial parasite is critically reliant on the invasive ookinete stage. Ookinete invasion of mosquito is coordinated by the apical complex, a specialised parasite structure containing components for secretion, attachment and penetration. While studies have investigated cytoskeletal and secretory elements, it is currently unknown if signalling modules are present or functional at the apical complex. Here we elucidate the role of a cryptic cyclic nucleotide-binding protein which we name CBP-O. PbCBP-O showed a marked localisation to the ookinete apex and disruption of the protein severely compromised ookinete invasion of mosquitos. Domain dissection analysis revealed that the …

Optical Coherence Tomography Enables The Depth-Resolved Measurement Of Cilia Beat Frequency In Ex Vivo Human Fallopian Tubes, Dilara J Long, Tian Xia, Photini F Rice, Deirdre M Scully, Makayla Johnson, Ryan Mistifer, Andrea Aguirre, John M Heusinkveld, Irina V Larina, Jennifer K Barton

Faculty, Staff and Students Publications

Objectives: The movement of cilia in the fallopian tubes (FTs) facilitates important processes involved in fertility, and abnormalities in cilia function are linked with diseases including endometriosis and pelvic inflammatory disease. For the first time, we demonstrate the use of optical coherence tomography (OCT) to create depth-resolved mapping of motile cilia locations and quantify cilia beat frequency (CBF) in human FT samples ex vivo.

Methods: Segments of the FT ampulla were acquired from five patients following salpingectomy under an IRB approved protocol. The samples were longitudinally opened to expose the luminal surface for imaging. A sequence of at least 500 …

The Structure Of Posttraumatic Stress Symptoms In Youth With And Without Obsessive-Compulsive Disorder: New Insights Using Factor And Network Analysis, Caitlin M Pinciotti, Matti Cervin, Kendall N Drummond, Jeffrey D Shahidullah, Justin F Rousseau, Cody G Dodd, Mercedes Ramirez, John M Hettema, Robyn Richmond, Leslie K Taylor, Lynn Monnat, Leslie Proch, Fei Teng, Wayne K Goodman, Eric A Storch, Andrew G Guzick, D Jeffrey Newport, Karen Dineen Wagner, Charles B Nemeroff

Faculty, Staff and Students Publications

Posttraumatic stress disorder (PTSD) and obsessive-compulsive disorder (OCD) share ostensibly similar and sometimes overlapping symptoms that complicate diagnostic assessment and conceptualization. While varying models for the symptom structure of PTSD have been proposed - including the presently used 4-factor and a more fine-grained 7-factor model - little research has focused on youth and even less is known about how these symptoms relate to one another when OCD is present. The present study used confirmatory factor analysis (CFA) and network analysis to compare PTSD symptom relations among 2066 trauma-exposed youth aged 8-20 enrolled in the Texas Childhood Trauma Research Network, of …

Antibiotic Stewardship In Pediatric Head And Neck Surgery, Mary Grace Robichaux, Zhide Fang, Jill N. D'Souza

School of Medicine Faculty Publications

OBJECTIVE: This study seeks to determine the rate of postoperative surgical site infections (SSI) among clean head and neck surgeries and review perioperative antibiotic administration practices. STUDY DESIGN: Retrospective review. SETTING: Pediatric tertiary care institution in New Orleans over a ten-year period. METHODS: A retrospective review was undertaken to identify clean head and neck surgical procedures performed at Manning Family Children's between 2013 and 2023. EPIC SlicerDicer™ was used to identify patients between ages 0-18 who underwent clean head and neck surgeries. Each chart was reviewed for perioperative antibiotic administration and occurrence of postoperative SSI. Rates of SSI were compared …

Time-Frequency Fingerprint Analysis In Seeg Source-Space To Identify The Epileptogenic Zone, Yash Shashank Vakilna, Deniz Atilgan, Johnson Hampson, Chinmay Chinara, Takfarinas Medani, Richard M Leahy, Nuria Lacuey, Samden D Lhatoo, Sandipan Pati, John C Mosher, Jay R Gavvala

Faculty, Staff and Student Publications

This case study highlights the application of seizure fingerprint analysis in the source-space of stereo-EEG (SEEG) data to accurately localize the epileptogenic zone (EZ) in patients with complex cortical malformations. A 25-year-old female with extensive bilateral perisylvian polymicrogyria (PMG) presented with intractable focal seizures. The source-level analysis performed in Brainstorm using the sLORETA imaging algorithm subsequently showed EZ fingerprint analysis. The patient underwent MR-guided laser interstitial thermal therapy (LITT), targeting the identified EZ, resulting in postoperative seizure freedom with minimal complications. Extending the analysis from the sensor-space to the source-space could further enhance surgical planning and improve outcomes in complex …

Five-Year Pivotal Trial Outcomes Of The Gore Excluder Conformable Endoprosthesis Implanted In Abdominal Aortic Aneurysms With Short Non-Angulated Infrarenal Seal Zones, Bjoern D Suckow, Gustavo S Oderich, Mahmoud W Almadani, Dai Yamanouchi, Alyssa J Pyun, Erin Moore, Patrick E Muck, Robert Y Rhee

Faculty, Staff and Students Publications

Objective: The GORE EXCLUDER Conformable Abdominal Aortic Aneurysm Endoprosthesis with Active Control System (EXCC) is approved in the United States (U.S.) for treatment of AAAs and highly angulated (≤90°) and short (≥10 mm) infrarenal aortic proximal seal zones (necks). Reported here are the 5-year outcomes of the EXCC U.S. pivotal clinical trial in the short, non-angulated cohort (SNA).

Methods: The EXCC investigational device exemption prospective pivotal trial short neck sub-study across 31 sites included patients with infrarenal necks measuring ≥10 mm length and ≤60° angulation. Five-year outcomes assessed by Core lab and adjudicated by independent review committee included patient safety …

Author Correction: Clonal Evolution Of Hematopoietic Stem Cells After Autologous Stem Cell Transplantation, Hidetaka Uryu, Koichi Saeki, Hiroshi Haeno, Chiraag Deepak Kapadia, Ken Furudate, Jyoti Nangalia, Michael Spencer Chapman, Linda Zhang, Jennifer Padilla, Li Zhao, Joanne I Hsu, Chong Zhao, Shujuan Chen, Tomoyuki Tanaka, Zongrui Li, Satoko Ogata, Sarah Hanache, Hui Yang, Courtney Dinardo, Naval Daver, Naveen Pemmaraju, Nitin Jain, Farhad Ravandi, Jianhua Zhang, Xingzhi Song, Erika Thompson, Hongli Tang, Latasha Little, Curtis Gumbs, Robert Z Orlowski, Muzaffar Qazilbash, Kapil Bhalla, Simona Colla, Hagop Kantarjian, Rashmi Kanagal-Shamanna, Carlos Bueso-Ramos, Daisuke Nakada, Gheath Al-Atrash, Jeffery Molldrem, P Andrew Futreal, Elizabeth Shpall, Margaret Goodell, Guillermo Garcia-Manero, Koichi Takahashi

Faculty, Staff and Student Publications

No abstract provided.

Heightened Risk: Childhood Trauma And Anticipatory Grief Exacerbate The Impact Of Loneliness On Depressive Symptoms And Lps-Stimulated Cytokines In Dementia Caregivers, Kelly N Brice, Jensine Paoletti-Hatcher, E Lydia Wu-Chung, Vincent D Lai, Daniel L Argueta, Michelle A Chen, Itee Mahant, Bryan T Denny, Charles Green, Luis D Medina, Paul Schulz, Jennifer Stinson, Samantha K Henry, Cobi Heijnen, Christopher P Fagundes

Faculty, Staff and Student Publications

Dementia spousal caregivers are at a disproportionate risk for adverse mental and physical health outcomes. Loneliness is associated with depressive symptoms and proinflammatory cytokine production among caregivers. Additionally, childhood trauma, anticipatory grief, and poor sleep quality are all associated with enhanced stress reactivity. This study used a cross-sectional design to investigate whether loneliness is associated with proinflammatory cytokine production and depressive symptoms in caregivers, and whether these relationships are strongest among caregivers who report high levels of childhood trauma, high amounts of anticipatory grief, or poor sleep quality. A sample of 111 dementia spousal caregivers provided blood samples and completed …

Atherosclerotic Cardiovascular Disease In Gulf War Veterans In Relation To Deployment Exposures, Sarah T Ahmed, Ruosha Li, Lea Steele, Peter Richardson, Kellie Sims, Rachel Quaden, Kelly M Harrington, Vijay Nambi, John M Gaziano, Robert Morgan, George L Delclos, Drew A Helmer

Faculty, Staff and Students Publications

Many 1990-1991 Gulf War Veterans (GWVs) were exposed to toxicants and environmental hazards during deployment, including oil well fire smoke, chemical/biological agents, pyridostigmine bromide (PB) pills, and pesticides. Multiple constituents of smoke are associated with increased risk for atherosclerotic cardiovascular diseases (ASCVD), and other toxic exposures have been associated with autonomic and lipid dysfunction. We used data from the Gulf War Era Cohort and Biorepository Study of veterans deployed to Gulf War in 1990-1991 (n = 942). We evaluated the association of deployment exposures (no, yes (1-6 days), (7-30 days), (31 + days), and not sure) with clinical risk factors …

Bone Quality Response To Lifestyle Intervention In Older Adults With Obesity (Limb-Q Trial): A Randomised Controlled Trial, Giulia Gregori, Sanjay Mediwala, Michael Liebschner, Daeseung Kim, Mon S Bryant, Nina Klonis, Reina Armamento-Villareal, Clifford Qualls, Dennis T Villareal

Faculty, Staff and Students Publications

Background: Lifestyle interventions for weight loss might exacerbate age-related bone loss and osteoporosis. However, there is limited knowledge about their effects on bone quality. We examined whether lifestyle intervention can preserve or enhance bone quality, despite reductions in bone mineral density.

Methods: The Lifestyle Intervention to Improve Bone Quality (LIMB-Q) study was a randomised controlled trial conducted at Baylor College of Medicine and the Michael E DeBakey VA Medical Center (Houston, TX, USA) including older adults (aged 65-85 years) with obesity (BMI ≥30 kg/m2). Participants were randomly assigned to receive either an intensive lifestyle intervention (intensive lifestyle group, consisting of …

High-Resolution Peripheral Quantitative Computed Tomography Reliability And Accuracy Of Bone Density And Morphology Properties In Children, Roman J Shypailo, Chadi Calarge, Punam K Saha, Xiaoliu Zhang, Xiaojie Chen, Stephanie Dinh, Xiaofan Huang, Babette S Zemel, Fida Bacha

Faculty, Staff and Students Publications

Volumetric bone density, microarchitecture, and strength measures using HR-pQCT are valuable measures of bone health in pediatrics. Our cross-sectional study evaluated bone measure reproducibility in pediatric participants using repeat HR-pQCT (XtremeCT II, Scanco Medical) scans of non-dominant distal tibia and radius of 30 healthy children and adolescents (7-17 yr, 47% female) by 2 technicians. Additionally, we examined HR-pQCT and micro-CT of 26 cadaveric distal tibia specimens to evaluate agreement between the modalities. All HR-pQCT scans were analyzed using manufacturer-provided software (Image Processing Language, Scanco Medical) and a fully automated, previously validated, in-house algorithm, offering measures of bone microstructure (eg, trabecular …

Wandering Spleen In A Pediatric Lung Transplant Patient With Filamin A Deficiency: An Incidental Finding, Savannah Ellis Knight, Mayel Yepez Donado, Maria Carolina Gazzaneo

Faculty, Staff and Students Publications

Background: Filamin A (FLNA) deficiency is a known cause of progressive lung disease and need for pediatric lung transplant; however, what may be less well known to lung transplant providers are the extrapulmonary complications of FLNA deficiencies, such as wandering spleen. We present a patient who underwent a lung transplant for FLNA deficiency and later developed posttransplant abdominal pain.

Case presentation: An 11-year-old female who had previously undergone a bilateral lung transplant due to FLNA deficiency, causing progressive lung disease, presented with abdominal pain and diarrhea. The patient's stool was tested for causes of gastroenteritis using a gastrointestinal pathogen panel …

Fetal Presentation Of A Child With Partial Atrioventricular Septal Defect And Calcium Release Deficiency Syndrome, Alexander J Kiener, Tam Dan N Pham, Christina Y Miyake, James C Wilkinson

Faculty, Staff and Students Publications

No abstract provided.

De Novo Pathogenic Csf1r Variant Implicates Microglial Dysfunction In Pathogenesis Of Febrile Infection-Related Epilepsy Syndrome, Kristen S Fisher, Jesse M Levine, Alexander Ankar, Ruizhi Duan, Yi Chen Lai, Eyal Muscal, Sarah R Risen, James J Riviello, Pei-Chien Tsai, Daniel G Calame

Faculty, Staff and Students Publications

Febrile infection-related epilepsy syndrome (FIRES) is a rare presentation of refractory status epilepticus following a febrile illness with resulting refractory epilepsy. Evidence supports the presence of immune dysregulation in patients with FIRES, but a monogenic basis for FIRES has not been identified in most cases. We present a case of a previously healthy 16-year-old male with FIRES who was found to have a de novo predicted damaging missense variant in CSF1R on clinical whole genome sequencing, a gene encoding a critical regulator of microglial homeostasis in which pathogenic variants cause adult onset leukoencephalopathy. Molecular modeling demonstrates that the CSF1R variant …

Cmr Findings In The Long-Term Outcomes After Multisystem Inflammatory Syndrome In Children (Music) Study, Sean M Lang, Dongngan T Truong, Andrew J Powell, Valiantsina Kazlova, Jane W Newburger, Jordan D Awerbach, Edem Binka, Tamara T Bradford, Mark Cartoski, Andrew Cheng, Michael P Dilorenzo, Audrey Dionne, Adam L Dorfman, Matthew D Elias, Olukayode Garuba, Jennifer F Gerardin, Keren Hasbani, Pei-Ni Jone, Christopher Z Lam, Nilanjana Misra, Lerraughn M Morgan, Arni Nutting, Jyoti K Patel, Joshua D Robinson, Eleanor L Schuchardt, Kristen Sexson Tejtel, Gautam K Singh, Timothy C Slesnick, Felicia Trachtenberg, Michael D Taylor, Music Study Investigators

Faculty, Staff and Students Publications

Background: Multisystem Inflammatory Syndrome in Children is characterized by high rates of acute cardiovascular involvement with rapid recovery of organ dysfunction. However, information regarding long-term sequelae is lacking. We sought to characterize the systolic function and myocardial tissue properties using cardiac magnetic resonance (CMR) imaging in a multicenter observational cohort of patients with Multisystem Inflammatory Syndrome in Children.

Methods: In this observational cohort study, comprising 32 centers in North America, CMR studies were analyzed by a core laboratory to assess ventricular volumetric data, tissue characterization, and coronary involvement.

Results: A total of 263 CMRs from 255 patients with Multisystem Inflammatory …

Optimal Head-Of-Bed Positioning Before Thrombectomy In Large Vessel Occlusion Stroke: A Randomized Clinical Trial, Anne W Alexandrov, Anne J Shearin, Pitchaiah Mandava, Gabriel Torrealba-Acosta, Cheran Elangovan, Balaji Krishnaiah, Katherine Nearing, Elizabeth Robinson, Cara Guthrie-Chu, Matthew Holzmann, Bryan Fill, Dharti R Trivedi, Alicia Richardson, Sandy Middleton, Barbara B Brewer, David S Liebeskind, Nitin Goyal, James C Grotta, Andrei V Alexandrov

Faculty, Staff and Students Publications

Importance: Small studies show that 0° head positioning of patients with large vessel occlusion (LVO) stroke improves penumbral blood flow and clinical stability. Understanding whether 0° head position maintains clinical stability would allow for optimal patient positioning before thrombectomy.

Objective: To determine superiority of 0° over 30° head positioning at maintaining clinical stability in patients with LVO before thrombectomy.

Design, setting, and participants: This was a prospective randomized clinical trial with blinding to study enrollment/end points conducted from May 2018 to November 2023. There were 3 planned interim analyses, and the study was conducted at certified thrombectomy hospitals in the …

Generation Of Induced Pluripotent Stem Cell Lines (Rfsci003-A, Rfsci004-A) From Monozygotic Twins Discordant For Age-Related Macular Degeneration, Naresh Rajendran, Wendy Runyon, Sam Hu, Ajeet Singh, Rinki Ratnapriya, Ritu Kumar, Karl Csaky, Srinivasa R Sripathi

Faculty, Staff and Students Publications

Age-related macular degeneration (AMD) has significant genetic component, yet monozygotic twins frequently exhibit discordance in disease status, highlighting the role of non-genetic factors. To enable comparative studies of AMD pathogenesis, we generated two induced pluripotent stem cell (iPSC) lines from peripheral blood mononuclear cells (PBMCs) of a monozygotic twin pair discordant for AMD. These iPSC lines offer a unique genetically matched resource to investigate molecular differences between affected and unaffected twins, as well as their responses to genetic, epigenetic, and environmental contributors to AMD development.