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Articles 2791 - 2820 of 32663
Full-Text Articles in Entire DC Network
Racial And Ethnic Associations With Interstitial Lung Disease And Healthcare Utilization In Patients With Systemic Sclerosis, Paul F Dellaripa, Gary Matthew Hunninghake, David W Bates
Racial And Ethnic Associations With Interstitial Lung Disease And Healthcare Utilization In Patients With Systemic Sclerosis, Paul F Dellaripa, Gary Matthew Hunninghake, David W Bates
Faculty, Staff and Students Publications
Objective: Racial and ethnic differences in presentation and outcomes have been reported in SSc and SSc-interstitial lung disease (ILD). However, prior studies have limited diversity. We aim to evaluate if there are racial/ethnic differences associated with ILD, time intervals between SSc and ILD, and emergency department (ED) visit or hospitalization rates.
Methods: Clinical and sociodemographic variables were extracted for 756 patients with SSc from longitudinal health records in an integrated health-system. Logistic regression models analysed the association of covariates with ILD and age at SSc-ILD. Healthcare outcomes were analysed with complementary log-log regression models.
Results: Overall, 33.7% of patients in …
Impact Of A Maternal Early Warning System And Severe Hypertension Safety Bundle On Timely Treatment Of Hypertensive Emergencies: A Quality Improvement And Health Equity Initiative, Lena Shay, Celeste Green, Christina Davidson
Impact Of A Maternal Early Warning System And Severe Hypertension Safety Bundle On Timely Treatment Of Hypertensive Emergencies: A Quality Improvement And Health Equity Initiative, Lena Shay, Celeste Green, Christina Davidson
Faculty, Staff and Students Publications
Background: Hypertensive disorders of pregnancy are a leading cause of pregnancy-related morbidity and mortality. Timely treatment of a hypertensive emergency has the potential to reduce preeclampsia-related morbidity and mortality.
Objective: To evaluate the impact of quality improvement and patient safety initiatives on timely treatment of hypertensive emergencies in pregnancy and racial and ethnic disparities.
Setting: Maternity teaching hospital in Texas Medical Center.
Population: Pregnant and postpartum women with hypertensive emergencies.
Methods: A retrospective chart review of all hospital deliveries with a hypertensive emergency was conducted from 1 January 2017 through 31 December 2024. During the study period, our hospital implemented …
Derivation Of Pluripotent Stem Cell Lines (Rfsci005-A, Rfsci006-A) From Siblings Harboring Identical High-Risk Complement Variants With Discordant Age-Related Macular Degeneration, Sam Hu, Ritu Kumar, Rinki Ratnapriya, Karl Csaky, Srinivasa R Sripathi
Derivation Of Pluripotent Stem Cell Lines (Rfsci005-A, Rfsci006-A) From Siblings Harboring Identical High-Risk Complement Variants With Discordant Age-Related Macular Degeneration, Sam Hu, Ritu Kumar, Rinki Ratnapriya, Karl Csaky, Srinivasa R Sripathi
Faculty, Staff and Students Publications
Age-related macular degeneration (AMD) is a complex disease influenced by genetic and environmental factors. Variants in the complement pathway, especially in the CFH gene, increase AMD risk, yet disease severity can differ among individuals with identical high-risk genotypes. We generated induced pluripotent stem cell (iPSC) lines from siblings carrying identical high-risk complement variants but displaying discordant AMD phenotypes. These lines provide a unique platform to study epigenetic, transcriptomic, and environmental factors driving AMD heterogeneity. By comparing differentiated retinal cells, we aim to reveal mechanisms behind variable disease susceptibility and inform personalized therapies for AMD.
Hemophagocytic Lymphohistiocytosis In A Pediatric Lung Transplant Recipient, David Moreno Mcneill, Maria C Gazzaneo, Ernestina Melicoff-Portillo, Nahir Cortes-Santiago
Hemophagocytic Lymphohistiocytosis In A Pediatric Lung Transplant Recipient, David Moreno Mcneill, Maria C Gazzaneo, Ernestina Melicoff-Portillo, Nahir Cortes-Santiago
Faculty, Staff and Students Publications
Background: Hemophagocytic lymphohistiocytosis (HLH) is a rare complication of solid organ transplantation and is a syndrome of systemic hyperinflammation secondary to dysregulation of the inflammatory response, primarily involving lymphocytes and macrophages. It is often fatal and therefore early recognition and treatment are crucial. Among 11 adult cases of HLH in post-lung transplant cases found in the literature, only one patient survived.
Case: We report the first known pediatric case of HLH following lung transplantation. The patient, a previously healthy adolescent, developed end-stage bullous lung disease secondary to acute respiratory distress syndrome (ARDS) and underwent bilateral lung transplantation. Two months posttransplant, …
Cerebellar Purkinje Cell Stripe Patterns Reveal A Differential Vulnerability And Resistance To Cell Loss During Normal Aging In Mice, Tao Lin, Hsiang-Chih Lu, Roy V Sillitoe
Cerebellar Purkinje Cell Stripe Patterns Reveal A Differential Vulnerability And Resistance To Cell Loss During Normal Aging In Mice, Tao Lin, Hsiang-Chih Lu, Roy V Sillitoe
Faculty, Staff and Students Publications
Age-related neurodegenerative diseases involve reduced cell numbers and impaired behavioral capacity. Neurodegeneration and behavioral deficits also occur during aging, and notably in the absence of disease. The cerebellum, which modulates movement and cognition, is susceptible to cell loss in both aging and disease. Here, we demonstrate that cerebellar Purkinje cell loss in aged mice is not spatially random but rather occurs in a pattern of parasagittal stripes. We also find that aged mice exhibit impaired motor coordination and more severe tremor compared to younger mice. However, the relationship between patterned Purkinje cell loss and motor dysfunction is not straightforward. Examination …
Abca4-Mutant Human Retinal Organoids Sequencing Reveals Organoids Application In Inherited Retinal Diseases, Zhen Zuo, Salma Ferdous, Xinye Qian, Jin Li, Jiaxiong Lu, Xuesen Cheng, Anna Matynia, Yumei Li, Rui Chen
Abca4-Mutant Human Retinal Organoids Sequencing Reveals Organoids Application In Inherited Retinal Diseases, Zhen Zuo, Salma Ferdous, Xinye Qian, Jin Li, Jiaxiong Lu, Xuesen Cheng, Anna Matynia, Yumei Li, Rui Chen
Faculty, Staff and Students Publications
In the studies of Inherited Retinal Diseases (IRDs), the knockout of traditional animal models like mice often fails to accurately replicate human phenotypes due to genetic and anatomical differences. Human retinal organoids (ROs) derived from stem cells have emerged as promising developmental models in retinal studies to delineate cell growth, but their ability to represent the characteristics of late-onset IRDs remains unclear. This study aims to validate ROs as a disease model for Stargardt's Disease (STGD) caused by ABCA4 mutations. Using single-cell RNA sequencing, ROs from 2 STGD patients were compared with healthy control-derived ROs at two developmental stages on …
Vaccine Hesitancy At Nine Community Sites Across The United States, Early In Covid-19 Vaccine Rollout, Jason E Farley, Yael Hirsch-Moverman, Ken Ho, Stockton Mayer, Abiodun Oluyomi, Magdalena E Sobieszczyk, Shobha Swaminathan, Timothy Skalland, Jean De Dieu Tapsoba, Patricia J Kissinger
Vaccine Hesitancy At Nine Community Sites Across The United States, Early In Covid-19 Vaccine Rollout, Jason E Farley, Yael Hirsch-Moverman, Ken Ho, Stockton Mayer, Abiodun Oluyomi, Magdalena E Sobieszczyk, Shobha Swaminathan, Timothy Skalland, Jean De Dieu Tapsoba, Patricia J Kissinger
Faculty, Staff and Students Publications
Background: Vaccine hesitancy has been a significant concern throughout the COVID-19 pandemic. Vaccine hesitancy can be attributed to lack of confidence in vaccines, complacency about the health threat, or lack of convenience of vaccination. To date, few studies have used methods designed to include populations underrepresented in research when identifying factors associated with vaccine hesitancy.
Methods: Between January and July 2021, potential participants were recruited from community venues selected through time-location sampling in 15 defined communities in the United States. Study staff administered a questionnaire on demographics, COVID-19 behaviors and attitudes, and vaccination status or intention to consenting individuals. Vaccine …
Adenovirus Types In Us Children Hospitalized Or Seen In The Emergency Department With Acute Respiratory Illness, 2016-2019, Justin Z Amarin, Olla Hamdan, Haya Hayek, Laura S Stewart, Herdi K Rahman, Rangaraj Selvarangan, Jennifer E Schuster, Christopher J Harrison, Mary E Moffatt, Marian G Michaels, John V Williams, Julie A Boom, Leila C Sahni, Vasanthi Avadhanula, Mary Allen Staat, Elizabeth P Schlaudecker, Christina Quigley, Geoffrey A Weinberg, Peter G Szilagyi, Janet A Englund, Eileen J Klein, Aaron T Curns, Heidi L Moline, Ariana P Toepfer, James D Chappell, Andrew J Spieker, Natasha B Halasa
Adenovirus Types In Us Children Hospitalized Or Seen In The Emergency Department With Acute Respiratory Illness, 2016-2019, Justin Z Amarin, Olla Hamdan, Haya Hayek, Laura S Stewart, Herdi K Rahman, Rangaraj Selvarangan, Jennifer E Schuster, Christopher J Harrison, Mary E Moffatt, Marian G Michaels, John V Williams, Julie A Boom, Leila C Sahni, Vasanthi Avadhanula, Mary Allen Staat, Elizabeth P Schlaudecker, Christina Quigley, Geoffrey A Weinberg, Peter G Szilagyi, Janet A Englund, Eileen J Klein, Aaron T Curns, Heidi L Moline, Ariana P Toepfer, James D Chappell, Andrew J Spieker, Natasha B Halasa
Faculty, Staff and Students Publications
Background: Human adenovirus (HAdV) is a common cause of pediatric acute respiratory illness (ARI), contributing to 5-13% of cases worldwide. Clinical manifestations vary by HAdV species and type; therefore, delineating type-specific disease presentations and understanding severity of specific HAdV types' disease may help develop targeted interventions.
Methods: We conducted a multicenter, prospective study within the New Vaccine Surveillance Network to characterize HAdV types. Children < 18 years old with ARI were enrolled in the emergency department or inpatient setting at 7 US children's hospitals from 1 December 2016 to 30 November 2019. Respiratory specimens were collected and tested for HAdV and other viruses. Subsequently, typing was conducted on HAdV specimens using single-plex real-time PCR assays targeting sequences in the hexon gene. Comparisons between HAdV types were performed to determine differences in characteristics and outcomes. Generalized linear mixed effects models were used to evaluate severity.
Results: Among the 1843 HAdV-positive cases, 1402 specimens (76%) were typed. The most common types detected were HAdV-C1 (n = 439), HAdV-C2 (n = 393), and HAdV-B3 (n = 221). Children with HAdV-B7 (n = 78) …
Method For Generation And Ex Vivo Expansion Of Genetically Edited Mouse Tregs, Sang Jun Han, David M Lonard, Bert W O'Malley
Method For Generation And Ex Vivo Expansion Of Genetically Edited Mouse Tregs, Sang Jun Han, David M Lonard, Bert W O'Malley
Faculty, Staff and Students Publications
Regulatory T cells (Tregs) play a crucial role in the immune system, and their dysfunction can lead to the development of autoimmune conditions. In cancer, tumors frequently hijack the immunosuppressive function of Tregs to evade immune responses. Due to their central role in key pathological processes, Tregs have gained increasing attention as promising targets for various clinical applications. However, their relative scarcity (∼5% to 10% of CD4+ T cells) and instability presents a technical challenge for research and therapeutic development. In congenic animal models used to investigate autologous cell transfer-based therapies, this challenge is even greater, as Treg donor animals …
Rbm8a Deficiency Causes Hematopoietic Defects By Modulating Wnt/Pcp Signaling, Seth T Jacobson, Emma N Harrison, Kevin Manuel Méndez-Acevedo, Jacalyn S Macgowan, Harrison H Wells, Max S Hiltabidle, Azhwar Raghunath, Jordan A Shavit, Daniela Panáková, Margot L K Williams, Mark D Robinson, Christian Mosimann, Alexa Burger
Rbm8a Deficiency Causes Hematopoietic Defects By Modulating Wnt/Pcp Signaling, Seth T Jacobson, Emma N Harrison, Kevin Manuel Méndez-Acevedo, Jacalyn S Macgowan, Harrison H Wells, Max S Hiltabidle, Azhwar Raghunath, Jordan A Shavit, Daniela Panáková, Margot L K Williams, Mark D Robinson, Christian Mosimann, Alexa Burger
Faculty, Staff and Students Publications
Thrombocytopenia-Absent Radius (TAR) syndrome is a rare congenital condition with reduced platelets, forelimb anomalies, and variable heart and kidney defects. TAR syndrome is caused by mutations in RBM8A/Y14, a component of the exon junction complex. How perturbing a general mRNA-processing factor causes the selective TAR Syndrome phenotypes remains unknown. Here, we connect zebrafish rbm8a perturbation to early hematopoietic defects via attenuated non-canonical Wnt/Planar Cell Polarity (PCP) signaling. In hypomorphic rbm8a zebrafish, we observe a reduction of cd41-positive thrombocytes. rbm8a-mutant zebrafish accumulate mRNAs with retained introns, including non-canonical Wnt/PCP pathway components resulting in convergent extension defects. We found that reduced rbm8a …
From Bladder To Brain: How You Know When It’S Time To Go, Anne M J Verstegen, Kara L Marshall
From Bladder To Brain: How You Know When It’S Time To Go, Anne M J Verstegen, Kara L Marshall
Duncan NRI Faculty and Staff Publications
The decision to urinate relies on assessing bladder fullness and context to determine an appropriate time and place to go. Any disruption in this interoceptive process results in frequent and sometimes debilitating consequences in daily life. Recent work has uncovered key pathways and brain regions that contribute to the sense of bladder stretch and the control of urinary reflexes, but many open questions remain. Here, we review the known mechanisms that convey sensory information from the bladder to the brain and back down again, and we highlight the knowledge gaps and opportunities for better understanding this system, which will be …
Loss Of The Lysosomal Protein Cln3 Triggers C-Abl-Dependent Yap1 Pro-Apoptotic Signaling, Neuza Domingues, Alessia Calcagni', Sofia Freire, Joana Pires, Ricardo Casqueiro, Ivan L Salazar, Niculin Joachim Herz, Tuong Huynh, Katarzyna Wieciorek, Tiago Fleming Outeiro, Henrique Girão, Ira Milosevic, Andrea Ballabio, Nuno Raimundo
Loss Of The Lysosomal Protein Cln3 Triggers C-Abl-Dependent Yap1 Pro-Apoptotic Signaling, Neuza Domingues, Alessia Calcagni', Sofia Freire, Joana Pires, Ricardo Casqueiro, Ivan L Salazar, Niculin Joachim Herz, Tuong Huynh, Katarzyna Wieciorek, Tiago Fleming Outeiro, Henrique Girão, Ira Milosevic, Andrea Ballabio, Nuno Raimundo
Duncan NRI Faculty and Staff Publications
Batten disease is characterized by early-onset blindness, juvenile dementia and death within the second decade of life. The most common genetic cause are mutations in CLN3, encoding a lysosomal protein. Currently, no therapies targeting disease progression are available, largely because its molecular mechanisms remain poorly understood. To understand how CLN3 loss affects cellular signaling, we generated human CLN3 knock-out cells (CLN3-KO) and performed RNA-seq analysis. Our multi-dimensional analysis reveals the transcriptional regulator YAP1 as a key factor in remodeling the transcriptome in CLN3-KO cells. YAP1-mediated pro-apoptotic signaling is also increased as a consequence of CLN3 functional loss in retinal pigment …
A Β-Lactamase Inhibitory Protein Mutant Displays High Potency And A Broad Inhibition Profile Due To An Altered Binding Mode With Β-Lactamases, Banumathi Sankaran, Bidadi Venkataram Prasad, Timothy Palzkill
A Β-Lactamase Inhibitory Protein Mutant Displays High Potency And A Broad Inhibition Profile Due To An Altered Binding Mode With Β-Lactamases, Banumathi Sankaran, Bidadi Venkataram Prasad, Timothy Palzkill
Faculty, Staff and Students Publications
β-lactamase enzymes inactivate β-lactam antibiotics, leading to drug resistance. The β-lactamase inhibitory protein (BLIP) is a naturally occurring inhibitor of β-lactamases, with inhibition constants (Ki) ranging from picomolar to micromolar values. For example, BLIP inhibits CTX-M-14 β-lactamase with a Ki of 330 nM, whereas the Ki for CTX-M-15 is 3 nM, despite CTX-M-14 and CTX-M-15 sharing 83% sequence identity. We used a genetic screen to identify a BLIP mutant, E73W, that potently inhibited CTX-M-14. Subsequent purification and testing of BLIP E73W revealed that it is a potent, broad-spectrum inhibitor of class A β-lactamases. We determined …
Patient-Centered Communication Case: Threatened Miscarriage, Colleen Donovan, Nicole Novotny, Stephanie Cohen, Charles Lei, Alaa Aldalati, Stephanie Stapleton, David Fernandez
Patient-Centered Communication Case: Threatened Miscarriage, Colleen Donovan, Nicole Novotny, Stephanie Cohen, Charles Lei, Alaa Aldalati, Stephanie Stapleton, David Fernandez
Faculty, Staff and Students Publications
Audience: This communication case is intended for EM residents of all levels.
Introduction: Patient-centered communication is a necessary skill in the practice of emergency medicine. This style of communication is crucial for promoting high-quality healthcare by prioritizing patient needs, perspectives, and values. This patient-centered communication case centers on miscarriage, a diagnosis where patient-centered communication is requisite. Approximately one in six or 17.1% of patients with a final diagnosis of miscarriage, also known as early pregnancy loss, present initially to the emergency department.1 Advising a patient of the diagnosis of miscarriage requires excellent communication skills including facile rapport building, empathy, nonverbal …
Cutting Edge Developments In Bone Oncology – Highlights From The Cancer And Bone Society 2024 Annual Meeting, Deanna N Edwards, Shreya Patel, Gabriel M Pagnotti
Cutting Edge Developments In Bone Oncology – Highlights From The Cancer And Bone Society 2024 Annual Meeting, Deanna N Edwards, Shreya Patel, Gabriel M Pagnotti
Faculty, Staff and Student Publications
The 2024 Annual Conference of the Cancer and Bone Society (CABS), held jointly with the Bone Research Society at the University of Sheffield, highlighted the Society's enduring mission to advance understanding of cancer-bone interactions through collaboration, mentorship, and scientific excellence. Established from the early Cancer Induced Bone Disease meetings and re-emerging as an independent body in 2016, CABS continues to serve as a global community bridging basic, translational, and clinical research. This year's meeting featured a comprehensive scientific program spanning tumor-bone biology, therapeutic innovation, and microenvironmental regulation. Clinical sessions emphasized the evolution of bone-targeted treatments such as bisphosphonates, denosumab, and …
Genetics Services In Latin America: A Descriptive Study Of Availability And Utilization Of Genetics In Healthcare, Claudia Soler-Alfonso, Sonia Margarit, Philip J Lupo, Stacey Pereira
Genetics Services In Latin America: A Descriptive Study Of Availability And Utilization Of Genetics In Healthcare, Claudia Soler-Alfonso, Sonia Margarit, Philip J Lupo, Stacey Pereira
Faculty, Staff and Students Publications
Genetic services are expanding globally, but access remains limited in low-resource regions such as Latin America. Understanding current service availability, barriers, and facilitators is critical to guide capacity building and improve patient care. We conducted a cross-sectional survey of healthcare professionals providing genetic services in Latin America. The survey, available in Spanish and English, assessed genetic services, referral patterns, testing availability, barriers, facilitators, and perceived needs. Descriptive statistics summarized quantitative data, and thematic analysis was applied to open-ended responses. Eighty-five respondents from 18 countries reported broad clinical activity across pediatric, cancer, and adult-onset genetic conditions. Commonly ordered tests included karyotype, …
Education Research: Eeg Instruction: Findings From A Scoping Review, Alexis Peedin, Jeffrey B Ratliff, Urvashi Vaid, Swati A Karmarkar, Moushumi Sur, Vivianne Van Kranen-Mastenbroek, Dimitrios Papanagnou, Marian H J M Majoie, Dorene F Balmer, Satid Thammasitboon
Education Research: Eeg Instruction: Findings From A Scoping Review, Alexis Peedin, Jeffrey B Ratliff, Urvashi Vaid, Swati A Karmarkar, Moushumi Sur, Vivianne Van Kranen-Mastenbroek, Dimitrios Papanagnou, Marian H J M Majoie, Dorene F Balmer, Satid Thammasitboon
Faculty, Staff and Students Publications
Background and objectives: Although EEG interpretation is a key skill in neurology, EEG instruction is variable and its landscape remains underexplored. Thus, we conducted a scoping review to expand the literature by providing a structured mapping of the EEG instruction literature and a foundation for future research in EEG instruction.
Methods: We followed a structured methodological framework for scoping reviews and report the findings in accordance with the Preferred Reporting Items for Systematic Reviews and Meta-Analyses extension for Scoping Reviews. Research questions explored theoretical frameworks, methodologies, learner populations, instructional methods, and assessment approaches. Eligibility criteria were iteratively modified to focus …
The Neonatal Gut Microbiome In Health And Disease
The Neonatal Gut Microbiome In Health And Disease
Faculty, Staff and Students Publications
No abstract provided.
The Microstructure Of Metastatic Bone Lesions Suggests Tumor Mediated Alterations In Bone Mineralization, Noah Dover, Andrei Demkov, Morgan Lilly, Guillermo Aguilar, Larry J Suva, Xiang H-F Zhang, Yuxiao Zhou
The Microstructure Of Metastatic Bone Lesions Suggests Tumor Mediated Alterations In Bone Mineralization, Noah Dover, Andrei Demkov, Morgan Lilly, Guillermo Aguilar, Larry J Suva, Xiang H-F Zhang, Yuxiao Zhou
Faculty, Staff and Students Publications
Breast, prostate and lung cancer cells frequently metastasize to bone, leading to disruption of the bone microstructure. This study utilized mechanical testing coupled with micro-CT imaging, digital volume correlation (DVC), and atomic force microscopy (AFM) nanomechanical testing to examine the mechanical property variations in mouse long bones (tibia) with metastatic lung cancer cell involvement, spanning from the whole-bone scale to the microstructural level. In addition, we also investigated how metastatic invasion alters the morphology of hydroxyapatite nanocrystals in bone at the nanometer scale. The biochemical composition within metastatic lesions was assessed using Raman spectroscopy and correlated with AFM mechanical testing …
Bridging The Gap: From Early Recognition To Timely Referral For Cardiac Implantable Electronic Devices Infections, Christopher B Granger, Andrew Uehlin, Yu-Rong Gao, Zerelda Esquer Garrigos
Bridging The Gap: From Early Recognition To Timely Referral For Cardiac Implantable Electronic Devices Infections, Christopher B Granger, Andrew Uehlin, Yu-Rong Gao, Zerelda Esquer Garrigos
Faculty, Staff and Students Publications
An increasing number of patients are living with cardiac implantable electronic devices (CIEDs). When a patient with a CIED is hospitalized with concern for infection or positive blood cultures from any source, recognizing and managing a possible CIED infection is critical due to its significant morbidity and mortality risk. Internists are often the first to evaluate these patients and must consider the possibility of an underlying device infection. Gram-positive bacteremia carries a high risk of CIED infection, often necessitating cardiac imaging. In contrast, hematogenous seeding with gram-negative bacteremia is infrequent. Patients with clinical or imaging evidence of device infection should …
Alternative Splicing Of The Snap23 Microexon Is Regulated By Mbnl, Qki, And Rbfox2 In A Tissue-Specific Manner And Is Altered In Striated Muscle Diseases, Bryan B Guzman, Rachel A Szymanski, Eunice Y Lee, Nichlas M Engels, Emma R Hinkle, Hannah J Wiedner, Aubriana N Bishop, Jonathan T Harrison, Hua Zhang, Xander H T Wehrens, Daniel Dominguez, Jimena Giudice
Alternative Splicing Of The Snap23 Microexon Is Regulated By Mbnl, Qki, And Rbfox2 In A Tissue-Specific Manner And Is Altered In Striated Muscle Diseases, Bryan B Guzman, Rachel A Szymanski, Eunice Y Lee, Nichlas M Engels, Emma R Hinkle, Hannah J Wiedner, Aubriana N Bishop, Jonathan T Harrison, Hua Zhang, Xander H T Wehrens, Daniel Dominguez, Jimena Giudice
Faculty, Staff and Students Publications
The reprogramming of alternative splicing networks during development is a hallmark of tissue maturation and identity. Alternative splicing of microexons (small, genomic regions ≤ 51 nucleotides) functionally regulate protein-protein interactions in the brain and is altered in several neuronal diseases. However, little is known about the regulation and function of alternatively spliced microexons in striated muscle. Here, we investigated alternative splicing of a microexon in the synaptosome-associated protein 23 (Snap23) encoded gene. We found that inclusion of this microexon is developmentally regulated and tissue-specific, as it occurs exclusively in adult heart and skeletal muscle. The alternative region is …
A Model For Developing Subspecialty Clinical Practice Guidelines: The Geriatric Emergency Department Guidelines 20, Lauren T Southerland, Alexander X Lo, Sangil Lee, Kirby Swan, Fabrice Mowbray, Rachel M Skains, Teresita M Hogan, Martin F Casey, Kei Ouchi, Naomi R George, Kerstin De Wit, Cameron J Gettel, Katherine Selman, Luna C Ragsdale, Anita N Chary, James D Van Oppen, Glenn Arendts, Charles L Maddow, Katherine M Hunold, Katren R Tyler, Danya Khoujah, Ula Hwang, Shan Liu
A Model For Developing Subspecialty Clinical Practice Guidelines: The Geriatric Emergency Department Guidelines 20, Lauren T Southerland, Alexander X Lo, Sangil Lee, Kirby Swan, Fabrice Mowbray, Rachel M Skains, Teresita M Hogan, Martin F Casey, Kei Ouchi, Naomi R George, Kerstin De Wit, Cameron J Gettel, Katherine Selman, Luna C Ragsdale, Anita N Chary, James D Van Oppen, Glenn Arendts, Charles L Maddow, Katherine M Hunold, Katren R Tyler, Danya Khoujah, Ula Hwang, Shan Liu
Faculty, Staff and Students Publications
The original consensus-based Geriatric Emergency Department (GED) Guidelines, published in 2014, established a framework of core principles for delivering high-quality, age-appropriate emergency care for older adults. In response to significant advances in geriatric emergency medicine research and evolving clinical priorities, we developed the GED Guidelines 2.0 to ensure continued relevance, clinical utility, and evidence-based rigor. This concept paper describes the systematic and iterative process undertaken to update the guidelines, including the formation of multidisciplinary working groups and the application of the Grading of Recommendations Assessment, Development, and Evaluation (GRADE) methodology. Unlike the original GED Guidelines, our approach prioritized methodological transparency, …
Lilrb4 Regulates Circadian Disruption-Induced Mammary Tumorigenesis Via Non-Canonical Wnt Signaling Pathway, Arhit Chakrabarti, Devon J Boland, Tristan Nguyen, James Sampson, Christian Nguyen, Danielle Fails, Yava Jones-Hall, Loning Fu, Gus Wright, Da Mi Kim, James J Cai, Bani Mallick, Alex C Keene, Jeff R Jones, Tapasree Roy Sarkar
Lilrb4 Regulates Circadian Disruption-Induced Mammary Tumorigenesis Via Non-Canonical Wnt Signaling Pathway, Arhit Chakrabarti, Devon J Boland, Tristan Nguyen, James Sampson, Christian Nguyen, Danielle Fails, Yava Jones-Hall, Loning Fu, Gus Wright, Da Mi Kim, James J Cai, Bani Mallick, Alex C Keene, Jeff R Jones, Tapasree Roy Sarkar
Faculty, Staff and Students Publications
Epidemiological studies have shown that circadian rhythm disruption (CRD) is associated with the risk of breast cancer. However, the role of CRD in mammary gland morphology and aggressive basal mammary tumorigenesis and the molecular mechanism underlying CRD-induced carcinogenesis remain unknown. To investigate the effect of CRD on aggressive tumorigenesis, a genetically engineered mouse model of aggressive breast cancer was used. The impact of CRD on the tumor microenvironment was investigated using the tumors from LD12:12 and CRD mice via scRNA-seq, flow cytometry, multiplexing immunostaining, and realtime PCR. The effect of LILRB4-immunotherapy on CRD-induced tumorigenesis was also investigated. Here we investigated …
Soluble C5b-9 (Sc5b-9) In Pediatrics-A Clinical Assessment, Sridevi Devaraj
Soluble C5b-9 (Sc5b-9) In Pediatrics-A Clinical Assessment, Sridevi Devaraj
Faculty, Staff and Students Publications
Background: The soluble C5b-9 (sC5b-9) is a soluble form of the Terminal Complement Complex (TCC) that is released into the circulation with elevated levels, associated with increased morbidity and mortality in patients with complement-mediated inflammatory conditions. With the advent of eculizumab and ravulizumab, proper testing for diagnoses and therapeutic monitoring is warranted.
Methods: We evaluated both the analytical and clinical performance of the Quidel Microvue sC5b-9 Plus enzyme immunoassay. Analytical performance was evaluated with precision, linearity, interference studies, and correlation with a reference laboratory. Reference intervals were established using control donor samples [n = 26; median age 18.5 years (range …
Decreasing Barriers To The Utilization Of Cryopreserved Sperm In Male Cancer Survivors: An Expert Review And Guide, Allyson Nevins, Luwam Ghidei, Jordan Kassab, Kevin Campbell, John Sullivan, Michael D Jochum, Laura Detti, Terri L Woodard, Larry I Lipshultz, Laurie J Mckenzie
Decreasing Barriers To The Utilization Of Cryopreserved Sperm In Male Cancer Survivors: An Expert Review And Guide, Allyson Nevins, Luwam Ghidei, Jordan Kassab, Kevin Campbell, John Sullivan, Michael D Jochum, Laura Detti, Terri L Woodard, Larry I Lipshultz, Laurie J Mckenzie
Faculty, Staff and Students Publications
Background: Sperm cryopreservation offers male cancer patients a critical opportunity to preserve fertility prior to gonadotoxic therapy, yet utilization of banked sperm remains modest, typically under 10%. A structured understanding of barriers across the cancer survivorship continuum is needed to support patients in utilization of cryopreserved sperm in alignment with their reproductive goals.
Materials and methods: This expert review synthesizes current evidence and clinical experience to explore the multifaceted barriers to cryopreserved sperm use and propose specific solutions. Key intervention timepoints are examined, including the post-treatment fertility return visit, long-term cryopreservation while remote from family building, readiness for family building, …
How Well Can Commonly Used Anxiety Scales Detect Treatment Outcomes In The Context Of Autism?, Eric A Storch, Philip C Kendall, Gaia Scerif, Cathy Creswell
How Well Can Commonly Used Anxiety Scales Detect Treatment Outcomes In The Context Of Autism?, Eric A Storch, Philip C Kendall, Gaia Scerif, Cathy Creswell
Faculty, Staff and Students Publications
Anxiety is one of the most prevalent mental health challenges in autistic children, yet there is limited evidence on effective tools to measure treatment outcomes. Previous research with non-autistic children has found that the Child Anxiety Impact Scale, Parent Version achieved good diagnostic accuracy when measuring treatment outcomes and performed better than a commonly used symptom measure. However, this has not been evaluated for autistic children. The present study examined the psychometric properties of the Child Anxiety Impact Scale, Parent Version in autistic children and compared its utility against other anxiety symptom measures, to detect treatment outcomes as assessed by …
A Deep Generative Model For Deciphering Cellular Dynamics And In Silico Drug Discovery In Complex Diseases, Geremy Clair, Aurelien Justet, Farida Ahangari, Xiting Yan, Paul Hansen, Marianne Carlon, Emanuela Cortesi, Marie Vermant, Robin Vos, Laurens J De Sadeleer, Ivan O Rosas, Ricardo Pineda, John Sembrat, Melanie Königshoff, John E Mcdonough, Bart M Vanaudenaerde, Wim A Wuyts, Naftali Kaminski, Jun Ding
A Deep Generative Model For Deciphering Cellular Dynamics And In Silico Drug Discovery In Complex Diseases, Geremy Clair, Aurelien Justet, Farida Ahangari, Xiting Yan, Paul Hansen, Marianne Carlon, Emanuela Cortesi, Marie Vermant, Robin Vos, Laurens J De Sadeleer, Ivan O Rosas, Ricardo Pineda, John Sembrat, Melanie Königshoff, John E Mcdonough, Bart M Vanaudenaerde, Wim A Wuyts, Naftali Kaminski, Jun Ding
Faculty, Staff and Students Publications
Human diseases are characterized by intricate cellular dynamics. Single-cell transcriptomics provides critical insights, yet a persistent gap remains in computational tools for detailed disease progression analysis and targeted in silico drug interventions. Here we introduce UNAGI, a deep generative neural network tailored to analyse time-series single-cell transcriptomic data. This tool captures the complex cellular dynamics underlying disease progression, enhancing drug perturbation modelling and screening. When applied to a dataset from patients with idiopathic pulmonary fibrosis, UNAGI learns disease-informed cell embeddings that sharpen our understanding of disease progression, leading to the identification of potential therapeutic drug candidates. Validation using proteomics reveals …
Group Concept Mapping To Develop A Salon-Based Hpv Self-Collection Intervention, Itunu O Sokale, Kathleen Pryor, Azaria Suero-Davis, Trevon Brooks, Jennifer Hatcher
Group Concept Mapping To Develop A Salon-Based Hpv Self-Collection Intervention, Itunu O Sokale, Kathleen Pryor, Azaria Suero-Davis, Trevon Brooks, Jennifer Hatcher
Faculty, Staff and Students Publications
Background: Black women in the US face higher cervical cancer mortality rates due to delayed diagnoses linked to lower screening rates. Contributing factors include provider bias, costs, and limited access, particularly affecting women aged 40-64. While innovative approaches like clinical and home-based HPV self-collection exist, equitable dissemination remains challenging. Distributing HPV self-collection kits in unconventional sites like hair salons may offer a solution. Using concept mapping, we gathered community insights to design a salon-based cervical cancer screening intervention.
Methods: We employed groupwisdom™ and REDCap platforms for community-based participatory intervention development. Participants included members of the Black Community Advisory Council of …
Feasibility Of Expiratory Muscle Strength Training In Individuals With Progressive Supranuclear Palsy, Jordanna S Sevitz, Nora Vanegas-Arroyave, Michelle S Troche
Feasibility Of Expiratory Muscle Strength Training In Individuals With Progressive Supranuclear Palsy, Jordanna S Sevitz, Nora Vanegas-Arroyave, Michelle S Troche
Faculty, Staff and Students Publications
Introduction: Dysphagia is common among individuals with Progressive Supranuclear Palsy (PSP). Expiratory muscle strength training (EMST) is a treatment used to increase expiratory muscle force production for airway protection deficits. To our knowledge, no studies have tested EMST in this population. The objective of this study was to determine the feasibility of EMST in individuals with PSP.
Methods: Twenty-nine participants completed baseline measures of maximum expiratory pressure and underwent a trial session of EMST. EMST was considered feasible if participants were able to complete at least 10 repetitions at 30% of their maximum expiratory pressure. Qualitative analyses were also completed …
Assessing Hesitancy Towards Paediatric Vaccines Among Healthcare Professionals: A Descriptive Cross-Sectional Study From The United Arab Emirates, Drishti D. Kampani, Kamel A. Samara, Mohammed Mahfouz, Ahmad Hisham Al-Anoud, Amna Basel Al-Beer, Humaid Altaheri, Hiba Jawdat Barqawi, Eman Abu-Gharbieh
Assessing Hesitancy Towards Paediatric Vaccines Among Healthcare Professionals: A Descriptive Cross-Sectional Study From The United Arab Emirates, Drishti D. Kampani, Kamel A. Samara, Mohammed Mahfouz, Ahmad Hisham Al-Anoud, Amna Basel Al-Beer, Humaid Altaheri, Hiba Jawdat Barqawi, Eman Abu-Gharbieh
Abington Jefferson Health Papers
BACKGROUND: Vaccination is one of the most effective public health interventions, preventing millions of deaths globally. However, vaccine hesitancy persists, not only among the public, but also among healthcare professionals (HCPs), who serve as key sources of vaccine information. This study assesses HCPs' vaccination attitudes and estimates the prevalence and determinants of vaccine hesitancy in the UAE.
DESIGN AND METHODS: This cross-sectional, descriptive study surveyed HCPs across the UAE from March to October 2024 using a 57-item questionnaire adapted from previous literature. Univariate, bivariate (chi-squared test), and multivariate (logistic regression) analyses were conducted.
RESULTS: HCPs demonstrated generally positive attitudes towards …