Medical Specialties Commons^™

A Unilateral Myopic Shift Secondary To Sturge-Weber Syndrome Results In Refractive Amblyopia Of The Fellow Eye In A Pediatric Patient, Mckenzie Stewart, Christina Twardowski

Posters

A 4-year-old patient with unilateral glaucoma secondary to Sturge-Weber Syndrome causes a myopic shift. The fellow healthy eye maintains high hyperopia resulting in anisometropic refractive amblyopia, requiring occlusion therapy. It is well documented that a glaucomatous high IOP causes an expansion of the globe due to excessive plasticity of collagen fibers in pediatric eyes. The elongated axial length induces myopic shifts. In this patient, the myopic shift in her glaucomatous eye resulted in a unilateral high hyperopic refractive error in the fellow eye with normal ocular health. This anisometropia is enough to cause amblyopia in the hyperopic eye. In past …

Terminal Ileal Intubation In Retroflexion In A Pediatric Patient, Lakshmi Kunam, Antonia Fernandez Ovalle, Thomas M. Attard

Posters

Background: Terminal ileum (TI) intubation is integral to complete diagnostic ileocolonoscopy in children. It is necessary to determine terminal ileal involvement in patients with a broad spectrum of pathologic processes. In some cases the standard method of intubation does not lead to success and retroflexion is needed. Here we describe the case of terminal ileal intubation in retroflexion on a 14 year old female. Case description: 14 year-old female patient with a past medical history of chronic abdominal pain, NAFLD, anxiety, vulvovaginitis, lichen sclerosus, depression, constipation, delayed menses, and GERD who was admitted for 2 weeks of escalating symptoms and …

But, It's Just A Uti, Gillian Long

Posters

IgA Vasculitis is a commonly seen presentation in the pediatric population. The constellation of symptoms typically includes purpuric rash, joint pain, abdominal pain and hematuria. This 12 year old female was seen by her pediatrician for rash on her legs, shortness of breath, cough and night sweats that all started around 2 months ago. Additionally, a 25 pound weight loss was noted over the past year. The rash appeared as nonblanching purpura on her lower extremities, lending suspicion to IgA Vasculitis. She was first treated for UTI with cefuroxime, and then treated with steroids. Urinalysis showed persistent hematuria and she …

Deoxycholic Acid Injections As A Nonsurgical Treatment For Lipomas In Adiposis Dolorosa (Dercum Disease), Zvi Schwartz, Kayla Brockmeyer, Neda Nikbakht

Department of Dermatology and Cutaneous Biology Faculty Papers

Adiposis dolorosa (Dercum disease) is a rare condition characterized by diffuse and recurring painful lipomas on the trunk and extremities. Patients are typically middle-aged females with an elevated BMI presenting with chronic pain. Physical examination reveals soft subcutaneous nodules and masses, tender to palpation. The associated pain significantly impacts quality of life and requires therapeutic intervention. The most common treatment option is surgical excision. Alternative options should be considered for patients with numerous lipomas where surgical management is not practical or is not desired. Deoxycholic acid injections are a viable alternative non-surgical technique. We present a case of a 55-year-old …

Drug-Induced Subacute Cutaneous Lupus Erythematous From Cenobamate: Case Presentation And Review Of The Literature, Safiyyah Bhatti, Daniel Joffe, Timothy Webster, Jason Lee, Neda Nikbakht

Department of Dermatology and Cutaneous Biology Faculty Papers

A 68-year-old woman with a history of seizures on cenobamate presented with an itchy rash all over her body. The rash started about one month prior to her presentation to the dermatology clinic. The rash was initially treated with topical triamcinolone with improvement at one-month follow-up. However, four months later the rash flared and there was concern that cenobamate was the cause. Biopsy was performed showing vacuolar interface dermatitis with atrophy, suggestive of subacute lupus erythematosus. Blood work revealed positive antinuclear antibody, anti-ribonucleoprotein antibody, Sjogren Anti-SS-A and positive histone antibody. Given the worsening rash, positive labs, and cenobamate as the …

Secondary Acmg And Non-Acmg Genetic Findings In A Multiethnic Cohort Of 16,713 Pediatric Participants, Amir Hossein Saeidian, Michael E March, Leila Youssefian, Deborah J Watson, Esha Bhandari, Xiang Wang, Xiaonan Zhao, Nichole Marie Owen, Alanna Strong, Margaret H Harr, Elizabeth Bhoj, Elaine Zackai, Hassan Vahidnezhad, Johann E Gudjonsson, Stephen D Cederbaum, Joshua L Deignan, Joseph Glessner, Wayne W Grody, Hakon Hakonarson

Faculty, Staff and Students Publications

Purpose: Clinical next-generation sequencing is an effective approach for identifying pathogenic sequence variants that are medically actionable for participants and families but are not associated with the participant's primary diagnosis. These variants are called secondary findings (SFs). According to the literature, there is no report of the types and frequencies of SFs in a large pediatric cohort that includes substantial African-American participants. We sought to investigate the types (including American College of Medical Genetics and Genomics [ACMG] and non-ACMG-recommended gene lists), frequencies, and rates of SFs, as well as the effects of SF disclosure on the participants and families of …

Malignant Transformation And Tumour Recurrence In Sacrococcygeal Teratoma: A Global, Retrospective Cohort Study., Lieke J. Van Heurn, Joep P M Derikx, Nigel Hall, Jennifer H. Aldrink, Maria M. Bailez, Lohfa B. Chirdan, Shigehisa Fumino, Afua Hesse, Tuktu Soyer, Shawn D. St Peter, Jos Twisk, Tianyou Yang, Ernst L W Van Heurn, Sct-Study Consortium

Manuscripts, Articles, Book Chapters and Other Papers

INTRODUCTION: Sacrococcygeal teratoma (SCT) is a rare congenital tumour. The risk of malignancy and recurrence are not well defined. Previous studies are small and report differing conclusions about the timing of surgery and the duration of follow-up. We studied the risk of malignant transformation and SCT recurrence after surgery to address these gaps.

METHODS: This was a global retrospective cohort study. Data of consecutive SCT patients was obtained from 145 institutes in 62 countries. Malignant transformation, defined as malignancy at initial resection, malignant recurrence or death due to malignancy, and its risk factors were analysed.

RESULTS: Of the 3612 included …

Fetal Sex Effects On Maternal Health Can Now Be Tested Via Randomization: A First-In-Class Illustration In Cows On Glucoregulatory Outcomes, Aridany Suarez-Trujillo, Colby J Vorland, Griffin T Nicholls, Daniella E Chusyd, Chelsie Parker, Lilian Golzarri-Arroyo, Sophia Swann, Bethany J Funnell, Kara R Stewart, David B Allison

Children’s Nutrition Research Center Staff Publications

Background: The maternal-offspring relationship, such as whether fetal sex influences maternal health, is essential to explore to advance prenatal and maternal health. While associations exist between fetal sex and maternal health outcomes, it is unclear whether these reflect a causal relationship.

Objective: To demonstrate that fetal sex can be randomly assigned to test the causal effect of fetal sex on maternal outcomes.

Methods: Holstein dairy cows were stratified and randomized using sealed opaque envelopes to be artificially inseminated with either X- or Y-sorted bull semen until 40 cows became pregnant. Monthly body weight measurements were recorded, and an intravenous glucose …

Avulsion Of The Flexor Digitorum Profundus Tendon During The Curettage Of A Recurrent Enchondroma: A Case Report, Shunpei Hama, Masataka Yasuda, Makoto Fukuda, Katsuaki Onishi, Takaaki Chikugo

Children’s Nutrition Research Center Staff Publications

Enchondroma rarely occurs in the distal phalanx, and avulsion of the flexor digitorum profundus (FDP) tendon in this area is also rare. We report a case of recurrent enchondroma in the distal phalanx, which required reconstruction for an accidental FDP avulsion during surgery. A 36-year-old right-handed woman visited our hospital with a suspected recurrence of enchondroma and a planned surgery. Radiographs and computed tomography revealed three translucent lesions in the distal phalanx of her left index finger. We performed curettage and calcium phosphate bone cement (CPC) grafting. During the procedure, an avulsion of the FDP tendon was found. We reattached …

First Interim Results From Fine-Real: A Prospective, Non-Interventional, Phase 4 Study Providing Insights Into The Use And Safety Of Finerenone In A Routine Clinical Settingfirst Interim Results From Fine-Real: A Prospective, Non-Interventional, Phase 4 Study Providing Insights Into The Use And Safety Of Finerenone In A Routine Clinical Setting, Susanne B Nicholas, Ricardo Correa-Rotter, Nihar R Desai, Lixin Guo, Sankar D Navaneethan, Kevin M Pantalone, Christoph Wanner, Stefanie Hamacher, Samuel T Fatoba, Andrea Horvat-Broecker, Antonio Garreta-Rufas, Alain Gay, Martin Merz, David C Wheeler

Center for Medical Ethics and Health Policy Staff Publications

Background: Finerenone, a selective non-steroidal mineralocorticoid receptor antagonist, improves kidney and cardiovascular outcomes in patients with chronic kidney disease (CKD) associated with type 2 diabetes (T2D). The FINE-REAL study (NCT05348733) aims to evaluate the characteristics and treatment patterns of participants treated with finerenone in clinical practice.

Methods: FINE-REAL is a prospective, single-arm, non-interventional study of patients initiated on finerenone as part of their routine care in accordance with country-approved labels. The study, initiated in June 2022, is expected to be completed by January 2028. The cutoff for this pre-specified interim analysis was June 13, 2023.

Results: Participants were …

Revealing Patterns Of Sars-Cov-2 Variant Emergence And Evolution Using Rbd Amplicon Sequencing Of Wastewater, Xingwen Chen, John Balliew, Cici X Bauer, Jennifer Deegan, Anna Gitter, Blake M Hanson, Anthony W Maresso, Michael J Tisza, Catherine L Troisi, Janelle Rios, Kristina D Mena, Eric Boerwinkle, Fuqing Wu

Faculty, Staff and Student Publications

Objectives: Rapid evolution of SARS-CoV-2 has resulted in the emergence of numerous variants, posing significant challenges to public health surveillance. Clinical genome sequencing, while valuable, has limitations in capturing the full epidemiological dynamics of circulating variants in the general population. This study aimed to monitor the SARS-CoV-2 variant community dynamics and evolution using receptor-binding domain (RBD) amplicon sequencing of wastewater samples.

Methods: We sequenced wastewater from El Paso, Texas, over 17 months, compared the sequencing data with clinical genome data, and performed biodiversity analysis to reveal SARS-CoV-2 variant dynamics and evolution.

Results: We identified 91 variants and observed waves of …

Trends In The Use Of Biologic Disease-Modifying Antirheumatic Drugs In Patients With Rheumatoid Arthritis And Recently Diagnosed Colorectal, Lung, Or Prostate Cancer, Maria E Suarez-Almazor, Juan I Ruiz, Xiudong Lei, Chi-Fang Wu, Hui Zhao, Suja S Rajan, Sharon H Giordano

Faculty, Staff and Student Publications

INTRODUCTION: Biologic disease-modifying antirheumatic drugs (bDMARD) are often discontinued when a patient with rheumatoid arthritis (RA) is diagnosed with cancer. Our aim was to determine trends in bDMARD utilization in patients with RA and recently diagnosed cancer.

METHOD: We examined two national claims databases to identify adults with RA and recently diagnosed colorectal, lung, or prostate cancer (Optum's de-identified Clinformatics® Data Mart Database 2008-2022, and Surveillance, Epidemiology, and End Results Program (SEER) Medicare-linked 2008-2017). We determined time trends in bDMARD and tumor necrosis factor inhibitor (TNFi) prescriptions during the first 3 years after cancer with Cochram-Armitage tests and multivariable logistic …

Association Between Risk Of Alzheimer’S Disease And Related Dementias And Angiotensin Receptor Ⅱ Blockers Treatment For Individuals With Hypertension In High-Volume Claims Data, Sori Kim Lundin, Xinyue Hu, Jingna Feng, Karl Kristian Lundin, Lu Li, Yong Chen, Paul Ernest Schulz, Cui Tao

Faculty, Staff and Student Publications

Background: Findings regarding the protective effect of Angiotensin II receptor blockers (ARBs) against Alzheimer's disease and related dementias (AD/ADRD) and cognitive decline have been inconclusive.

Methods: Individuals with hypertension who do not have any prior ADRD diagnosis were included in this retrospective cohort study from Optum's de-identified Clinformatics® Data Mart. We identified antihypertensive medication (AHM) drug classes and subclassified ARBs by blood-brain barrier (BBB) permeability. We compared baseline characteristics and used the Kaplan-Meier (KM) survival curve and adjusted Cox proportional hazards (PH) model for survival analyses.

Findings: From 6,390,826 individuals with hypertension, there were 1,839,176 ARB users, 3,366,841 non-ARB AHM …

History Of Incarceration And Dental Care Use Among Older Adults In The United States, Alexander Testa, Dylan B Jackson, Carmen Gutierrez, Chantal Fahmy, Vahed Maroufy, Rafael Samper-Ternent, Ana C Neumann

Faculty, Staff and Student Publications

INTRODUCTION: Dental care is a critical component of healthy aging; however, emerging evidence suggests that having been previously incarcerated is a risk factor for not using dental care services. This study investigates the relationship between prior incarceration and dental care among older adults and assesses whether wealth and dental insurance explain this relationship.

METHODS: Data are from the Health and Retirement Study, a nationally representative sample of community-dwelling older adults in the United States, collected in 2012 and 2014. Multivariable logistic regression is used to assess the relationship between a history of incarceration and dental care. Mediation analyses were conducted …

Incorporating External Controls In The Design Of Randomized Clinical Trials: A Case Study In Solid Tumors, Emily M Damone, Jiawen Zhu, Herbert Pang, Xiao Li, Yinqi Zhao, Evan Kwiatkowski, Lisa A Carey, Joseph G Ibrahim

Faculty, Staff and Student Publications

BACKGROUND: The use of historical external control data in clinical trials has grown in interest and needs when considering the design of future trials. Hybrid control designs can be more efficient to achieve the same power with fewer patients and limited resources. The literature is sparse on appropriate statistical methods which can account for the differences between historical external controls and the control patients in a study. In this article, we illustrate the analysis framework of a clinical trial if a hybrid control design was used after determining an RCT may not be feasible.

METHODS: We utilize two previously completed …

A Novel Statistical Framework For Meta-Analysis Of Total Mediation Effect With High-Dimensional Omics Mediators In Large-Scale Genomic Consortia, Zhichao Xu, Peng Wei

Faculty, Staff and Student Publications

Meta-analysis is used to aggregate the effects of interest across multiple studies, while its methodology is largely underexplored in mediation analysis, particularly in estimating the total mediation effect of high-dimensional omics mediators. Large-scale genomic consortia, such as the Trans-Omics for Precision Medicine (TOPMed) program, comprise multiple cohorts with diverse technologies to elucidate the genetic architecture and biological mechanisms underlying complex human traits and diseases. Leveraging the recent established asymptotic standard error of the R-squared (R2)-based mediation effect estimation for high-dimensional omics mediators, we have developed a novel meta-analysis framework requiring only summary statistics and allowing inter-study heterogeneity. Whereas the proposed …

Persistent Post-Dural Puncture Headaches One Year After Lumbar Puncture: A Case Report, Zamanali Khakhar, Maeheq Mir, Soraiya Manji, Sheila Waa, Sayed Karar

Internal Medicine, East Africa

Post-dural puncture headaches usually occur when the cerebrospinal fluid (CSF) leaks due to trauma to the dura mater. This often results in spontaneous intracranial hypotension characterized by orthostatic headaches, neck stiffness, and nausea. In this case report, we discuss a 20-year-old male patient who developed symptoms of intracranial hypotension one year following a lumbar puncture. A spinal magnetic resonance imaging (MRI) revealed a CSF collection in the epidural space. This was treated successfully by an epidural blood patch (EBP) which resolved the patient's symptoms. This case highlights the necessity of recognizing delayed lumbar puncture complications and the need for a …

Postnatal Growth Of Etiologically Characterized Preterm Newborns According To Gestational Age At Birth, Paola Roggero, Irina Ryumina, Robert Gunier, Adele Winsey, Stephen Rauch, Irma Alejandra Coronado Zarco, Shabina Ariff, Maria Albertina Rego, Constanza Soto Conti, R. Ochieng

Obstetrics and Gynaecology, East Africa

Objective: To examine the relationship between etiologically-based preterm birth sub-groups and early postnatal growth according to gestational age at birth.

Methods: Prospective, multinational, cohort study involving 15 hospitals that monitored preterm newborns to hospital discharge. Measures/exposures: maternal demographics; etiologically-based preterm birth sub-groups; very, moderate and late preterm categories, and feeding. Primary outcomes: serial anthropometric measures expressed as z-scores of the INTERGROWTH-21st preterm postnatal growth standards.

Results: We included 2320 singletons and 1180 twins: very=24.4% (n = 856, including 178 < 28 weeks’ gestation); moderate=16.9% (n = 592) and late preterm=58.6% (n = 2052). The median (interquartile range) postmenstrual age at the last measure was 37 (36–38) weeks. The ‘no main condition’ sub-group percentage increased from early to late preterm; the ‘perinatal sepsis’ sub-group percentage decreased. ‘Perinatal sepsis’, ‘suspected IUGR’ and ‘fetal distress’ very and late preterm infants had lower postnatal growth patterns than the ‘no main condition’ reference sub-group. This pattern persisted in late but not very preterm infants when postnatal growth was corrected for weight z-score at birth.

Conclusion: The proportional contribution of etiologically-based preterm sub-groups and their postnatal growth trajectories vary by preterm category. Postnatal growth is partially …

The Association Of Migration-Related Stress With Poor Mental Health Among Recently Resettled Afghan Refugees, Munjireen Sifat, Sarah Kenney, Venera Bekteshi, Shawn Chiang, Motolani Ogunsanya, Laili Boozary, Adam Alexander, Darla Kendzor

Department of Medical Oncology Faculty Papers

BACKGROUND: The resettlement of Afghan refugees in Oklahoma City, OK, provides a critical context for examining the mental health challenges faced by this population due to post-migration stressors.

METHODS: This study utilized online surveys to recently resettled Afghan refugees in Oklahoma City, with support provided by bilingual research assistants to accommodate low literacy rates. Surveys, initially in English, were professionally translated into Dari and Pashto and validated through back-translation.

RESULTS: Participants (N = 348) were majority of Pashtun ethnicity. High rates of mental health issues were evident, with 62.1 % of participants screening positive for depression and 20.1 % …

A Phase I Dose Escalation Study Of The Lrp5 Antagonist Bi 905681 In Patients With Advanced And Metastatic Solid Tumors, D. R. Spigel, J. S. Wang, L. Pronk, B. Muskens, M. Teufel, Babar Bashir, H. Burris

Department of Medical Oncology Faculty Papers

BACKGROUND: The Wnt pathway is involved in proliferation and tissue homeostasis. Aberrant activation promotes cancer cell proliferation and survival. Inhibition of the low-density lipoprotein receptor-related protein 5/6 (LRP5/6) coreceptors that regulate Wnt signaling could prevent cancer cell proliferation. BI 905681 is a novel LRP5 antagonist that has demonstrated potent in vivo antitumor activity.

PATIENTS AND METHODS: This was a phase I, dose escalation study (NCT04147247) evaluating BI 905681 in patients with advanced solid tumors over two dosing schedules (schedule A: every 3 weeks, 3-week cycles and schedule B: every 2 weeks, 4-week cycles). The primary endpoint was the maximum tolerated …

Quantitative Biomechanical Analysis In Validating A Video-Based Model To Remotely Assess Physical Frailty: A Potential Solution To Telehealth And Globalized Remote-Patient Monitoring, Mohammad Dehghan Rouzi, Myeounggon Lee, Jaewon Beom, Sanam Bidadi, Abderrahman Ouattas, Gozde Cay, Anmol Momin, Michele K York, Mark E Kunik, Bijan Najafi

Center on Aging Staff Publications

Assessing physical frailty (PF) is vital for early risk detection, tailored interventions, preventive care, and efficient healthcare planning. However, traditional PF assessments are often impractical, requiring clinic visits and significant resources. We introduce a video-based frailty meter (vFM) that utilizes machine learning (ML) to assess PF indicators from a 20 s exercise, facilitating remote and efficient healthcare planning. This study validates the vFM against a sensor-based frailty meter (sFM) through elbow flexion and extension exercises recorded via webcam and video conferencing app. We developed the vFM using Google's MediaPipe ML model to track elbow motion during a 20 s elbow …

Survival In Patients With Rheumatoid Arthritis And Early Breast Cancer Treated With Tumor Necrosis Factor Inhibitors, Juan I Ruiz, Xiudong Lei, Wu Chi-Fang, Sharon H Giordano, Hui Zhao, Suja S Rajan, Heather Lin, Maria E Suarez-Almazor

Faculty, Staff and Student Publications

Background: There have been concerns about the use of tumor necrosis factor inhibitors (TNFi) for autoimmune disease in patients with recently diagnosed cancer. We assessed the survival of patients with rheumatoid arthritis (RA) and newly diagnosed early breast cancer (BC) treated with TNFi in the first two years after BC diagnosis.

Methods: We identified patients in two datasets: (1) Optum's de-identified Clinformatics® Data Mart Database (CDM), (2) Surveillance, Epidemiology, and End Results program (SEER) and Texas Cancer Registry (TCR) Medicare-linked cohort. We grouped patients according to whether they received TNFi, conventional synthetic disease-modifying antirheumatic drugs (csDMARDs) only, or no DMARDs …

Impact Of Racial, Ethnic, And Socioeconomic Disparities On Presentation And Survival Of Hcc: A Multicenter Study, Nicole E Rich, Patricia D Jones, Hong Zhu, Tanushree Prasad, Amy Hughes, Sandi Pruitt, Caitlin C Murphy, Karim Seif-El-Dahan, Darine Daher, Gloria Figueroa, Stephanie Castaneda, Lisa Quirk, Michael Gonzales, Osiris Carranza, Samantha Bourque, Nargis Baset, Adam C Yopp, Amit G Singal

Faculty, Staff and Student Publications

BACKGROUND: Racial and ethnic disparities have been reported for HCC prognosis, although few studies fully account for clinically important factors and social determinants of health, including neighborhood socioeconomic status.

METHODS: We conducted a retrospective multicenter cohort study of patients newly diagnosed with HCC from January 2010 through August 2018 at 4 large health systems in the United States. We used multivariable logistic regression and cause-specific Cox proportional hazard models to identify factors associated with early-stage HCC presentation and overall survival.

RESULTS: Of 2263 patients with HCC (37.6% non-Hispanic White, 23.5% non-Hispanic Black, 32.6% Hispanic, and 6.4% Asian/other), 42.0% of patients …

Impact Of Participation In Cardiac Rehabilitation Post Myocardial-Infarction: An Integrative Review, Zoie Maynard, Mallory Stinson

Master's Projects

As one of the most common causes of hospitalization, the prevalence of myocardial infarction is indisputable Since this condition is so ubiquitous, a treatment protocol is initiated with methods to help patients modify their lifestyle, treat their underlying disease process, educate them to prevent reoccurrence, and improve their healthcare outcomes. This protocol relies heavily on the use of cardiac rehabilitation. Despite the implementation of this treatment protocol, the concern for recurrence and rehospitalization remains. The goal of this integrative review is to determine how participation in cardiac rehabilitation post-myocardial infarction impacts healthcare outcomes including rates of rehospitalization and depression. The …

Seasons Of Kawasaki Disease During The Covid-19 Pandemic., Todd T. Nowlen, Ashraf S. Harahsheh, Geetha Raghuveer, Simon Lee, Anji T. Yetman, Nagib Dahdah, Michael A. Portman, Supriya S. Jain, Michael Khoury, Selemet Tierney, Cedric Manlhiot, Pedrom Farid, Brian W. Mccrindle

Manuscripts, Articles, Book Chapters and Other Papers

The incidence of Kawasaki Disease has a peak in the winter months with a trough in late summer/early fall. Environmental/exposure factors have been associated with a time-varying incidence. These factors were altered during the COVID-19 pandemic. The study was performed through the International Kawasaki Disease Registry. Data from patients diagnosed with acute Kawasaki Disease and Multiple Inflammatory Syndrome-Children were obtained. Guideline case definitions were used to confirm site diagnosis. Enrollment was from 1/2020 to 7/2023. The number of patients was plotted over time. The patients/month were tabulated for the anticipated peak Kawasaki Disease season (December-April) and non-peak season (May-November). Data …

Trustworthiness Criteria For Meta-Analyses Of Randomized Controlled Studies: Obgyn Journal Guidelines., Vincenzo Berghella

Department of Obstetrics and Gynecology Faculty Papers

No abstract provided.

Tfeb Controls Syncytiotrophoblast Formation And Hormone Production In Placenta, Marcella Cesana, Gennaro Tufano, Francesco Panariello, Nicolina Zampelli, Chiara Soldati, Margherita Mutarelli, Sandro Montefusco, Giuseppina Grieco, Lucia Vittoria Sepe, Barbara Rossi, Edoardo Nusco, Giada Rossignoli, Giorgia Panebianco, Fabrizio Merciai, Emanuela Salviati, Eduardo Maria Sommella, Pietro Campiglia, Graziano Martello, Davide Cacchiarelli, Diego Luis Medina, Andrea Ballabio

Duncan NRI Faculty and Staff Publications

TFEB, a bHLH-leucine zipper transcription factor belonging to the MiT/TFE family, globally modulates cell metabolism by regulating autophagy and lysosomal functions. Remarkably, loss of TFEB in mice causes embryonic lethality due to severe defects in placentation associated with aberrant vascularization and resulting hypoxia. However, the molecular mechanism underlying this phenotype has remained elusive. By integrating in vivo analyses with multi-omics approaches and functional assays, we have uncovered an unprecedented function for TFEB in promoting the formation of a functional syncytiotrophoblast in the placenta. Our findings demonstrate that constitutive loss of TFEB in knock-out mice is associated with defective formation of …

Pushing The Boundaries Of Rare Disease Diagnostics With The Help Of The First Undiagnosed Hackathon, Angelica Maria Delgado-Vega, Helene Cederroth, Fulya Taylan, Katja Ekholm, Marlene Ek, Håkan Thonberg, Anders Jemt, Daniel Nilsson, Jesper Eisfeldt, Kristine Bilgrav Saether, Ida Höijer, Ozlem Akgun-Dogan, Yui Asano, Tahsin Stefan Barakat, Dominyka Batkovskyte, Gareth Baynam, Olaf Bodamer, Wanna Chetruengchai, Pádraic Corcoran, Madeline Couse, Daniel Danis, German Demidov, Eisuke Dohi, Mattias Erhardsson, Luis Fernandez-Luna, Toyofumi Fujiwara, Neha Garg, Roberto Giugliani, Claudia Gonzaga-Jauregui, Giedre Grigelioniene, Tudor Groza, Cecilia Gunnarsson, Anna Hammarsjö, Charles Kumi Hammond, Özden Hatirnaz Ng, Sirisha Hesketh, Dineshani Hettiarachchi, Maria Johansson Soller, Umn Ahmed Kirmani, Martin Kjellberg, Malin Kvarnung, Oleg Kvlividze, Kristina Lagerstedt-Robinson, Paul Lasko, Timo Lassmann, Lynette Y S Lau, Steven Laurie, Weng Khong Lim, Zhandong Liu, Mariya Lysenkova Wiklander, Prince Makay, Alassane Baneye Maiga, Carolina Maya-González, M Stephen Meyn, Ramprasad Neethiraj, Vincenzo Nigro, Felix Nordgren, Jessica Nordlund, Sara Orrsjö, Jesper Ottosson, Ugur Ozbek, Özkan Özdemir, Clyde Partin, David A Pearce, Raquel Peck, Annie Pedersen, Maria Pettersson, Monnat Pongpanich, Manuel Posada De La Paz, Arun Ramani, Juan Andres Romero, Vanessa I Romero, Richard Rosenquist, Aung Min Saw, Matthew Spencer, Eva-Lena Stattin, Chalurmpon Srichomthong, Isabel Tapia-Paez, Domenica Taruscio, Julie P Taylor, Tinatin Tkemaladze, Ian Tully, Zeynep Tümer, Wendy A G Van Zelst-Stams, Alain Verloes, Emma Västerviga, Sailan Wang, Rachel Yang, Shinya Yamamoto, Vicente A Yépez, Qing Zhang, Vorasuk Shotelersuk, Samuel Agyei Wiafe, Yasemin Alanay, Lorenzo D Botto, Salman Kirmani, Aimé Lumaka, Elizabeth Emma Palmer, Ratna Dua Puri, Valtteri Wirta, Anna Lindstrand, Orion J Buske, Mikk Cederroth, Ann Nordgren

Duncan NRI Faculty and Staff Publications

The first-ever Undiagnosed Hackathon was a groundbreaking event held by the Wilhelm Foundation, the Karolinska Undiagnosed Disease Program, and PhenoTips in collaboration with UDNI to solve medical mysteries and advance diagnostics for undiagnosed rare diseases. Nearly 100 healthcare professionals and researchers from 28 countries participated, working intensively for 48 hours to diagnose 10 families with undiagnosed rare diseases. This innovative approach to precision diagnostics highlighted the power of international, multidisciplinary collaboration and patient partnership, yielding promising results for patients seeking answers and benefiting the entire rare diseases community.

Suppression Of Matrigel-Induced Choroidal Neovascularization By Aav Delivery Of A Novel Anti-Scg3 Antibody, Chengchi Huang, Avinash Kaur, Liyang Ji, Hong Tian, Keith A Webster, Wei Li

Faculty, Staff and Students Publications

Efforts to develop gene therapy for long-term treatment of neovascular disease are hampered by ongoing concerns that biologics against vascular endothelial growth factor (VEGF) inhibit both physiological and pathological angiogenesis and are therefore at elevated risk of adverse side effects. A potential solution is to develop disease-targeted gene therapy. Secretogranin III (Scg3), a unique disease-restricted angiogenic factor described by our group, contributes significantly to ocular neovascular disease. We have shown that Scg3 blockade with a monoclonal antibody Fab fragment (Fab) stringently inhibits pathological angiogenesis without affecting healthy vessels. Here we tested the therapeutic efficacy of adeno-associated virus (AAV)-anti-Scg3Fab to block …

A Site-Wise Reliability Analysis Of The Abcd Diffusion Fractional Anisotropy And Cortical Thickness: Impact Of Scanner Platforms, Yezhi Pan, L Elliot Hong, Ashley Acheson, Paul M Thompson, Neda Jahanshad, Alyssa H Zhu, Jiaao Yu, Chixiang Chen, Tianzhou Ma, Ho-Ling Liu, Jelle Veraart, Els Fieremans, Nicole R Karcher, Peter Kochunov, Shuo Chen

Faculty, Staff and Student Publications

The Adolescent Brain and Cognitive Development (ABCD) project is the largest study of adolescent brain development. ABCD longitudinally tracks 11,868 participants aged 9-10 years from 21 sites using standardized protocols for multi-site MRI data collection and analysis. While the multi-site and multi-scanner study design enhances the robustness and generalizability of analysis results, it may also introduce nonbiological variances including scanner-related variations, subject motion, and deviations from protocols. ABCD imaging data were collected biennially within a period of ongoing maturation in cortical thickness and integrity of cerebral white matter. These changes can bias the classical test-retest methodologies, such as intraclass correlation …