Open Access. Powered by Scholars. Published by Universities.®
- Discipline
-
- Medicine and Health Sciences (7793)
- Medical Sciences (7755)
- Medical Specialties (7002)
- Diseases (1830)
- Life Sciences (1549)
-
- Pediatrics (1345)
- Public Health (1154)
- Medical Molecular Biology (1097)
- Biological Phenomena, Cell Phenomena, and Immunity (992)
- Medical Genetics (946)
- Biomedical Informatics (688)
- Oncology (599)
- Neurosciences (557)
- Mental and Social Health (549)
- Biochemistry, Biophysics, and Structural Biology (543)
- Health Services Research (535)
- Neurology (499)
- Cardiology (478)
- Medical Cell Biology (409)
- Genetics and Genomics (408)
- Gastroenterology (402)
- Digestive System Diseases (380)
- Biology (357)
- Endocrinology, Diabetes, and Metabolism (355)
- Surgery (342)
- Cardiovascular Diseases (308)
- Genetic Phenomena (304)
- Epidemiology (289)
- Microbiology (287)
- Medical Microbiology (281)
- Keyword
-
- Humans (4480)
- Female (1934)
- Male (1726)
- Animals (1514)
- Mice (1034)
-
- Adult (816)
- Child (810)
- Middle Aged (741)
- Aged (594)
- Adolescent (491)
- Retrospective Studies (433)
- Infant (403)
- United States (387)
- Preschool (369)
- Child, Preschool (366)
- Risk Factors (321)
- COVID-19 (303)
- Treatment Outcome (284)
- Young Adult (268)
- Inbred C57BL (239)
- Mice, Inbred C57BL (239)
- Biomarkers (236)
- Animal (231)
- Receptors (216)
- Tumor (214)
- Mutation (213)
- Disease Models (205)
- Disease Models, Animal (203)
- Prospective Studies (196)
- Cell Line (192)
Articles 2551 - 2580 of 7803
Full-Text Articles in Entire DC Network
A Comparative Analysis Of Hysterectomy Outcomes: Robotic Single-Port Vs Traditional Transvaginal Notes Approaches, Qiannan Yang, Daniel Y Lovell, Juliana Wu, Chunhua Zhang, Xiaoming Guan
A Comparative Analysis Of Hysterectomy Outcomes: Robotic Single-Port Vs Traditional Transvaginal Notes Approaches, Qiannan Yang, Daniel Y Lovell, Juliana Wu, Chunhua Zhang, Xiaoming Guan
Faculty, Staff and Students Publications
Introduction: This study aimed to explore the feasibility and safety of robotic single port vaginal natural orifice transluminal endoscopic surgery (RSP-vNOTES) hysterectomy when compared with traditional vaginal natural orifice transluminal endoscopic surgery (T-vNOTES) hysterectomy.
Methods: In this study, the clinical data of 135 patients who underwent RSP-vNOTES or T-vNOTES hysterectomy performed by a single minimally invasive gynecologic surgeon from January 2017 to September 2024 were retrospectively analyzed. Clinical characteristics, surgical outcomes, perioperative complications, and postoperative pain scores were collected and analyzed.
Results: A total of 79 patients underwent T-vNOTES hysterectomy and 56 patients underwent RSP-vNOTES hysterectomy. Compared to the T-vNOTES …
Editorial: Pathogenesis And Clinical Treatment Of Diabetic Nephropathy, Ziyun Xu, Sheng Qiang, Zhaoyong Hu, Haiyong Chen
Editorial: Pathogenesis And Clinical Treatment Of Diabetic Nephropathy, Ziyun Xu, Sheng Qiang, Zhaoyong Hu, Haiyong Chen
Faculty, Staff and Students Publications
No abstract provided.
Mice With Lymphatic Dysfunction Develop Pathogenic Lung Tertiary Lymphoid Organs That Model An Autoimmune Emphysema Phenotype Of Copd, Barbara Summers, Kihwan Kim, Anjali Trivedi, Tyler M Lu, Sean Houghton, Jade Palmer-Johnson, Joselyn Rojas-Quintero, Juan Cala-Garcia, Tania Pannellini, Francesca Polverino, Raphaël Lis, Hasina Outtz Reed
Mice With Lymphatic Dysfunction Develop Pathogenic Lung Tertiary Lymphoid Organs That Model An Autoimmune Emphysema Phenotype Of Copd, Barbara Summers, Kihwan Kim, Anjali Trivedi, Tyler M Lu, Sean Houghton, Jade Palmer-Johnson, Joselyn Rojas-Quintero, Juan Cala-Garcia, Tania Pannellini, Francesca Polverino, Raphaël Lis, Hasina Outtz Reed
Faculty, Staff and Students Publications
We have previously shown that mice with a loss of C-type lectin-like type II (CLEC2), which have lymphatic dysfunction due to the role of CLEC2 in platelets for maintaining separation between the venous and lymphatic system, develop lung tertiary lymphoid organ (TLO) formation and lung injury that resembles an emphysema phenotype of chronic obstructive pulmonary disease (COPD). We now sought to investigate whether and how TLOs in these mice may play a pathogenic role in lung injury that is relevant to human disease. We found that inhibiting TLO formation using an anti-CD20 antibody in CLEC2-deficient mice partially blocked the development …
Advancing Narcolepsy Advocacy: Bridging Patient Narratives And Systemic Change, Ahmed Salem Bahammam, Lindsay Jesteadt, Hamza Dhafar, Amir Sharafkhaneh
Advancing Narcolepsy Advocacy: Bridging Patient Narratives And Systemic Change, Ahmed Salem Bahammam, Lindsay Jesteadt, Hamza Dhafar, Amir Sharafkhaneh
Faculty, Staff and Students Publications
We introduce the Stigma-to-Structure Advocacy Framework, a novel, evidence-based model designed to transform narcolepsy advocacy by systematically bridging patient narratives with structural change. Narcolepsy remains a profoundly underdiagnosed and misunderstood neurological disorder, with persistent diagnostic delays and pervasive cultural stigma undermining patient well-being and access to care. Despite recent progress in awareness and support, advocacy efforts remain fragmented and insufficiently integrated with health policy, particularly in low- and middle-income countries. This perspective advances a strategic evolution of narcolepsy advocacy through the Stigma-to-Structure Advocacy Framework, which is anchored in three pillars: narrative-driven awareness, clinical system integration, and policy activation. Drawing on …
Gut Microbial Community Structure Of The Adult Citrus Root Weevil Diaprepes Abbreviatus, Imilce A Rodriguez-Fernandez, Tasha M Santiago-Rodriguez, Paola G Figueroa-Pratts, Keislamarí Cintrón-Berríos, Nichole D Rodriguez-Cornier, Gary A Toranzos
Gut Microbial Community Structure Of The Adult Citrus Root Weevil Diaprepes Abbreviatus, Imilce A Rodriguez-Fernandez, Tasha M Santiago-Rodriguez, Paola G Figueroa-Pratts, Keislamarí Cintrón-Berríos, Nichole D Rodriguez-Cornier, Gary A Toranzos
Faculty, Staff and Students Publications
Diaprepes abbreviatus is an agricultural pest known to affect around 270 plant species across the Caribbean and the United States, posing significant challenges to pest management. Chemical control dominates management, but environmental and health concerns motivate microbiome-informed alternatives. However, limited information exists on the gut anatomy, physicochemical environment, and microbial composition of D. abbreviatus. In this study, we provide the first comprehensive characterization of the gut morphology, pH, and microbiota of adult D. abbreviatus in both females and males collected in Puerto Rico. Using dye-based gut tracing, we identified foregut, midgut, and hindgut or posterior gut compartments, and confirmed the …
Experiences From Dual Genome Next-Generation Sequencing Panel Testing For Mitochondrial Disorders: A Comprehensive Molecular Diagnosis, Elizabeth Gorman, Hongzheng Dai, Yanming Feng, William James Craigen, David C Y Chen, Fan Xia, Linyan Meng, Pengfei Liu, Robert Rigobello, Arpita Neogi, Christine M Eng, Yue Wang
Experiences From Dual Genome Next-Generation Sequencing Panel Testing For Mitochondrial Disorders: A Comprehensive Molecular Diagnosis, Elizabeth Gorman, Hongzheng Dai, Yanming Feng, William James Craigen, David C Y Chen, Fan Xia, Linyan Meng, Pengfei Liu, Robert Rigobello, Arpita Neogi, Christine M Eng, Yue Wang
Faculty, Staff and Students Publications
Introduction: The molecular diagnosis of mitochondrial disorders is complicated by phenotypic variability, genetic heterogeneity, and the complexity of mitochondrial heteroplasmy. Next-generation sequencing (NGS) of the mitochondrial genome in combination with a targeted panel of nuclear genes associated with mitochondrial disease provides the highest likelihood of obtaining a comprehensive molecular diagnosis. To assess the clinical utility of this approach, we describe the results from a retrospective review of patients having dual genome panel testing for mitochondrial disease.
Methods: Dual genome panel testing by NGS was performed on a cohort of 1,509 unrelated affected individuals with suspected mitochondrial disorders. This test included …
Causes Of Death Across Different Locations In The United States, 2015 To 2022, Taha Mansoor, Daniyal Shahid, Kartik Gupta, Dmitry Abramov, Salim S Virani, Abdul Mannan Khan Minhas
Causes Of Death Across Different Locations In The United States, 2015 To 2022, Taha Mansoor, Daniyal Shahid, Kartik Gupta, Dmitry Abramov, Salim S Virani, Abdul Mannan Khan Minhas
Faculty, Staff and Students Publications
Objective: The objective of this study was to investigate the leading underlying causes of death across different locations in the USA from 2015 to 2022.
Methods: Data on the leading underlying causes of death in each location of death-including medical outpatient facility or emergency room, medical inpatient facility, medical facility/dead on arrival, decedent's home, hospice facility, and nursing home/long-term care-within the USA in individuals ≥18 years were extracted from the Centers for Disease Control and Prevention Wide-Ranging Online Data for Epidemiologic Research (CDC WONDER) database.
Results: There were 22,236,700 deaths in our studied locations during the study period. Most deaths …
Strategies For The Secondary Prevention Of Atherosclerotic Cardiovascular Disease, Madelyn Hurwitz, Olayinka J Agboola, Abhishek Gami, Marlene S Williams, Salim S Virani, Garima V Sharma, Jaideep Patel
Strategies For The Secondary Prevention Of Atherosclerotic Cardiovascular Disease, Madelyn Hurwitz, Olayinka J Agboola, Abhishek Gami, Marlene S Williams, Salim S Virani, Garima V Sharma, Jaideep Patel
Faculty, Staff and Students Publications
Patients with atherosclerotic cardiovascular disease (ASCVD), such as those with a history of MI or stroke, are at high risk for morbidity and mortality associated with future cardiovascular events. Ideal management of these patients requires a multifactorial strategy for risk factor mitigation and prevention of additional cardiovascular events. Traditional management of secondary prevention patients involves lipid-lowering with statins, blood pressure control, and anti-platelet treatment. Several additional targets have been identified to optimize the secondary prevention of ASCVD, such as further lipid control, inflammation management, lifestyle and weight optimization, strict diabetes control, use of β-blockers, use of renin-angiotensin-aldosterone system inhibitors, vaccinations, …
Circulating Tumor Hpv Dna, Antibodies To Hpv16 Early Proteins, And Oral Hpv16 Dna As Biomarkers For Hpv-Related Oropharyngeal Cancer Screening, Kristina R Dahlstrom, Andrew T Day, Victor M Alvarez, Samantha R Chirinos, Giselle Santillana, Ming Guo, Karen S Anderson, Erich M Sturgis
Circulating Tumor Hpv Dna, Antibodies To Hpv16 Early Proteins, And Oral Hpv16 Dna As Biomarkers For Hpv-Related Oropharyngeal Cancer Screening, Kristina R Dahlstrom, Andrew T Day, Victor M Alvarez, Samantha R Chirinos, Giselle Santillana, Ming Guo, Karen S Anderson, Erich M Sturgis
Faculty, Staff and Students Publications
Background: Oropharyngeal cancer rates continue to rise with no effective screening method. Persistent oral oncogenic human papillomavirus (HPV), antibodies to HPV16 early (E) oncoproteins, and circulating tumor HPV DNA (ctHPVDNA) are biomarkers that show promise for use in HPV-related cancer screening.
Objective: To assess the prevalence of biomarkers for HPV-related cancer and their agreement in middle-aged men.
Methods: Men aged 50–64 years from the general population provided oral rinse and blood samples as well as information about demographics, tobacco/alcohol exposure, sexual behavior, and HPV-related disease history. Oral rinse was tested for HPV16 DNA and plasma was tested for HPV16 E …
Developing An Annual Review Of The Literature, Weinstein R Amy, Szauter Karen, Duca Nicholas, Jacob Jackcy, Ismail Nadia, Pincavage Amber, Walsh Katherine, Alexandraki Irene
Developing An Annual Review Of The Literature, Weinstein R Amy, Szauter Karen, Duca Nicholas, Jacob Jackcy, Ismail Nadia, Pincavage Amber, Walsh Katherine, Alexandraki Irene
Faculty, Staff and Students Publications
Many national meetings and speaker series feature an "Annual Review of the Literature" (ARL) session in which an individual or team presents a sampling of articles, selected and prepared because they represent important current topics or new ideas in the discipline of interest. Despite this, there is little in the medical literature describing how to thoughtfully and systematically develop these sessions. We identify best practices that we have developed and used in the United States Clerkship Directors of Internal Medicine (CDIM) over many years. These include identification of a theme, team assembly, timeline development, search strategy and rubric development and …
Urinary Ammonium: A Potential Novel Biomarker For Diarrhea Severity In Patients With Ulcerative Colitis, Jared A Sninsky, L Parker Gregg, Mahbubur Rahman, Adith Ram, Jason K Hou
Urinary Ammonium: A Potential Novel Biomarker For Diarrhea Severity In Patients With Ulcerative Colitis, Jared A Sninsky, L Parker Gregg, Mahbubur Rahman, Adith Ram, Jason K Hou
Faculty, Staff and Students Publications
No abstract provided.
Design And Rationale Of Myoflame-19 Randomised Controlled Trial: Myocardial Protection To Reduce Post-Covid Inflammatory Heart Disease Using Cardiovascular Magnetic Resonance Endpoints, Valentina O Puntmann, Dietrich Beitzke, Andreas Kammerlander, Inga Voges, Dominik D Gabbert, Marcus Doerr, Bishwas Chamling, Biykem Bozkurt, Juan Carlos Kaski, Erica Spatz, Eva Herrmann, Gernot Rohde, Philipp Deleuw, Lenka Taylor, Christine Windemuth-Kieselbach, Cornelia Harz, Marta Santiuste, Laura Schoeckel, Juliana Hirayama, Peter C Taylor, Colin Berry, Eike Nagel
Design And Rationale Of Myoflame-19 Randomised Controlled Trial: Myocardial Protection To Reduce Post-Covid Inflammatory Heart Disease Using Cardiovascular Magnetic Resonance Endpoints, Valentina O Puntmann, Dietrich Beitzke, Andreas Kammerlander, Inga Voges, Dominik D Gabbert, Marcus Doerr, Bishwas Chamling, Biykem Bozkurt, Juan Carlos Kaski, Erica Spatz, Eva Herrmann, Gernot Rohde, Philipp Deleuw, Lenka Taylor, Christine Windemuth-Kieselbach, Cornelia Harz, Marta Santiuste, Laura Schoeckel, Juliana Hirayama, Peter C Taylor, Colin Berry, Eike Nagel
Faculty, Staff and Students Publications
Background: Cardiac symptoms due to postacute inflammatory cardiac involvement affect a broad segment of previously well people with only mild acute coronavirus disease 2019 (COVID-19) illness and without overt structural heart disease. Cardiovascular magnetic resonance (CMR) imaging can identify the underlying subclinical disease process, which is associated with chronic cardiac symptoms. Specific therapy directed at reducing postacute cardiac inflammatory involvement before development of myocardial injury and impairment is missing.
Methods: Prospective multicenter randomized placebo-controlled study of myocardial protection therapy (combined immunosuppressive/antiremodeling) of low-dose prednisolone and losartan. Consecutive symptomatic individuals with a prior COVID-19 infection, no pre-existing significant comorbidities or structural …
Effects Of Dialysate Potassium Concentration Of 30 Mmol/Leffects Of Dialysate Potassium Concentration Of 30 Mmol/L With Sodium Zirconium Cyclosilicate On Dialysis-Free Days Versus Dialysate Potassium Concentration Of 20 Mmol/L Alone On Rates Of Cardiac With Sodium Zirconium Cyclosilicate On Dialysis-Free Days Versus Dialysate Potassium Concentration Of 20 Mmol/L Alone On Rates Of Cardiac Arrhythmias In Hemodialysis Patients With Hyperkalemia Arrhythmias In Hemodialysis Patients With Hyperkalemia, David M Charytan, Wolfgang C Winkelmayer, Christopher B Granger, John P Middleton, Charles A Herzog, Glenn M Chertow, James M Eudicone, Jeremy D Whitson, James A Tumlin
Effects Of Dialysate Potassium Concentration Of 30 Mmol/Leffects Of Dialysate Potassium Concentration Of 30 Mmol/L With Sodium Zirconium Cyclosilicate On Dialysis-Free Days Versus Dialysate Potassium Concentration Of 20 Mmol/L Alone On Rates Of Cardiac With Sodium Zirconium Cyclosilicate On Dialysis-Free Days Versus Dialysate Potassium Concentration Of 20 Mmol/L Alone On Rates Of Cardiac Arrhythmias In Hemodialysis Patients With Hyperkalemia Arrhythmias In Hemodialysis Patients With Hyperkalemia, David M Charytan, Wolfgang C Winkelmayer, Christopher B Granger, John P Middleton, Charles A Herzog, Glenn M Chertow, James M Eudicone, Jeremy D Whitson, James A Tumlin
Faculty, Staff and Students Publications
The optimal approach towards managing serum potassium (sK+) and hemodialysate potassium concentrations is uncertain. To study this, adults receiving hemodialysis for three months or more with hyperkalemia (pre-dialysis sK+ 5.1-6.5 mmol/l) had cardiac monitors implanted and were randomized to either eight weeks of 2.0 mmol/l potassium/1.25 mmol/l calcium dialysate without sodium zirconium cyclosilicate (SZC) (2.0 potassium/noSZC) or 3.0 mmol/l potassium/1.25 mmol/l calcium dialysate combined with SZC (3.0 potassium/SZC) on non-dialysis days to maintain pre-dialysis sK+ 4.0-5.5 mmol/l, followed by treatment crossover for another eight weeks. The primary outcome was the rate of adjudicated atrial fibrillation (AF) episodes of at least …
Antithymocyte Globulin Therapy In Chronic Lung Allograft Dysfunction, Akhilesh Ajay Padhye, Danielle Guffey, Andres Leon-Pena, Justin Segraves, Ramiro Fernandez, Gabriel Loor, Puneet Garcha, Tianshi David Wu, Gloria Li
Antithymocyte Globulin Therapy In Chronic Lung Allograft Dysfunction, Akhilesh Ajay Padhye, Danielle Guffey, Andres Leon-Pena, Justin Segraves, Ramiro Fernandez, Gabriel Loor, Puneet Garcha, Tianshi David Wu, Gloria Li
Faculty, Staff and Students Publications
Introduction: Lung transplantation has seen strides in survival over the past few decades, though long-term survival remains poor. Chronic lung allograft dysfunction (CLAD) is a leading cause of graft failure and mortality beyond the first year. Anti-thymocyte globulin (ATG) is commonly used for treating refractory CLAD, though its efficacy remains uncertain.
Methods: This retrospective study evaluated the impact of ATG on lung function decline and mortality among lung transplant recipients diagnosed with CLAD, defined as a persistent >20% decline in forced expiratory volume (FEV1) from baseline. Patients treated with ATG were compared to those who did not receive ATG, using …
Monoallelic Expression Can Govern Penetrance Of Inborn Errors Of Immunity, O'Jay Stewart, Conor Gruber, Haley E Randolph, Roosheel Patel, Meredith Ramba, Enrica Calzoni, Lei Haley Huang, Jay Levy, Sofija Buta, Angelica Lee, Christos Sazeides, Zoe Prue, David P Hoytema Van Konijnenburg, Ivan K Chinn, Luis A Pedroza, James R Lupski, Erica G Schmitt, Megan A Cooper, Anne Puel, Xiao Peng, Stéphanie Boisson-Dupuis, Jacinta Bustamante, Satoshi Okada, Marta Martin-Fernandez, Jordan S Orange, Jean-Laurent Casanova, Joshua D Milner, Dusan Bogunovic
Monoallelic Expression Can Govern Penetrance Of Inborn Errors Of Immunity, O'Jay Stewart, Conor Gruber, Haley E Randolph, Roosheel Patel, Meredith Ramba, Enrica Calzoni, Lei Haley Huang, Jay Levy, Sofija Buta, Angelica Lee, Christos Sazeides, Zoe Prue, David P Hoytema Van Konijnenburg, Ivan K Chinn, Luis A Pedroza, James R Lupski, Erica G Schmitt, Megan A Cooper, Anne Puel, Xiao Peng, Stéphanie Boisson-Dupuis, Jacinta Bustamante, Satoshi Okada, Marta Martin-Fernandez, Jordan S Orange, Jean-Laurent Casanova, Joshua D Milner, Dusan Bogunovic
Faculty, Staff and Students Publications
Inborn errors of immunity (IEIs) are genetic disorders that underlie susceptibility to infection, autoimmunity, autoinflammation, allergy and/or malignancy1. Incomplete penetrance is common among IEIs despite their monogenic basis2. Here we investigate the contribution of autosomal random monoallelic expression (aRMAE), a somatic commitment to the expression of one allele3,4, to phenotypic variability observed in families with IEIs. Using a clonal primary T cell system to assess aRMAE status of genes in healthy individuals, we find that 4.30% of IEI genes and 5.20% of all genes undergo aRMAE. Perturbing H3K27me3 and DNA methylation alters …
Examining Parents’ Perceptions Of Their Children’S Autism And Completion Of Genetic Testing, Georgina J Sakyi, Sarah S Mire, Robin P Goin-Kochel, Chaya N Murali, Susan X Day
Examining Parents’ Perceptions Of Their Children’S Autism And Completion Of Genetic Testing, Georgina J Sakyi, Sarah S Mire, Robin P Goin-Kochel, Chaya N Murali, Susan X Day
Faculty, Staff and Students Publications
Though genetic testing is recommended for children diagnosed with autism spectrum disorder (ASD), both internal (e.g. parents’ and providers’ valuation of genetic testing) and external (e.g. insurance coverage) barriers exist, and exploration of these factors is required to close the gap between provider recommendations and parent follow-through. In a sample of 290 parents, we explored (a) how parents’ ASD-related etiological beliefs and symptom attributions, as well as income, affected genetic testing completion; and (b) whether these factors influence parents’ hopes or concerns about genetic testing. Principal component analysis (PCA) was used to investigate the factor structure of the ASD attribution …
Refining The Interpretation Of Variants Of Uncertain Significance In Hereditary Cancer Screening Through Integrated Rna Sequencing, Youbao Sha, J Bryce Ortiz, Sara L Bristow, Kate Loranger, Linyan Meng, Xiaonan Zhao, Fan Xia, Sheetal Parmar, Adam C Elnaggar, Wenbo Xu
Refining The Interpretation Of Variants Of Uncertain Significance In Hereditary Cancer Screening Through Integrated Rna Sequencing, Youbao Sha, J Bryce Ortiz, Sara L Bristow, Kate Loranger, Linyan Meng, Xiaonan Zhao, Fan Xia, Sheetal Parmar, Adam C Elnaggar, Wenbo Xu
Faculty, Staff and Students Publications
Purpose: Although up to 25% of germline variants are predicted to affect splicing, most are classified as variants of uncertain significance (VUS) because of the limited understanding of their functional consequences. Here, we investigated the impact of RNA sequencing (RNA-seq) data on the ability to resolve splicing-related VUS.
Methods: Patients with VUS predicted to alter splicing identified through commercial hereditary cancer testing between October 2021 to July 2023 were included. RNA-seq was used to compare splicing patterns between patient blood samples and normal controls. VUS reclassification rates were calculated.
Results: In total, 411 VUS in 52 genes predicted to affect …
Refining The Interpretation Of Variants Of Uncertain Significance In Hereditary Cancer Screening Through Integrated Rna Sequencing, Youbao Sha, J Bryce Ortiz, Sara L Bristow, Kate Loranger, Linyan Meng, Xiaonan Zhao, Fan Xia, Sheetal Parmar, Adam C Elnaggar, Wenbo Xu
Refining The Interpretation Of Variants Of Uncertain Significance In Hereditary Cancer Screening Through Integrated Rna Sequencing, Youbao Sha, J Bryce Ortiz, Sara L Bristow, Kate Loranger, Linyan Meng, Xiaonan Zhao, Fan Xia, Sheetal Parmar, Adam C Elnaggar, Wenbo Xu
Faculty, Staff and Students Publications
Purpose: Although up to 25% of germline variants are predicted to affect splicing, most are classified as variants of uncertain significance (VUS) because of the limited understanding of their functional consequences. Here, we investigated the impact of RNA sequencing (RNA-seq) data on the ability to resolve splicing-related VUS.
Methods: Patients with VUS predicted to alter splicing identified through commercial hereditary cancer testing between October 2021 to July 2023 were included. RNA-seq was used to compare splicing patterns between patient blood samples and normal controls. VUS reclassification rates were calculated.
Results: In total, 411 VUS in 52 genes predicted to affect …
Whole Exome Sequencing As A Screening Tool In Dogs: A Pilot Study, Fréderique Boeykens, Evelien Bogaerts, Liesbeth Vossaert, Luc Peelman, Filip Van Nieuwerburgh, Jimmy H Saunders, Bart J G Broeckx
Whole Exome Sequencing As A Screening Tool In Dogs: A Pilot Study, Fréderique Boeykens, Evelien Bogaerts, Liesbeth Vossaert, Luc Peelman, Filip Van Nieuwerburgh, Jimmy H Saunders, Bart J G Broeckx
Faculty, Staff and Students Publications
Background: Whole-exome sequencing (WES) is used to selectively sequence all exons of protein-coding genes. WES is considered as a cost-effective and direct approach for identifying phenotype-associated variants in protein-coding regions and is as such situated between the traditional Sanger sequencing and whole genome sequencing (WGS). While WES is already widely used as a clinical tool in human and medical genetics, its use in veterinary medicine is currently restricted to research purposes. In this article, we aimed to provide baseline performance characteristics of a WES design to assess its suitability with future applications in veterinary clinical genetics in mind.
Methods: To …
Igf-1 Impacts Neocortical Interneuron Connectivity In Epileptic Spasm Generation And Resolution, Carlos J Ballester-Rosado, John T Le, Trang T Lam, Anne E Anderson, James D Frost, John W Swann
Igf-1 Impacts Neocortical Interneuron Connectivity In Epileptic Spasm Generation And Resolution, Carlos J Ballester-Rosado, John T Le, Trang T Lam, Anne E Anderson, James D Frost, John W Swann
Faculty, Staff and Students Publications
Little is known about the mechanisms that generate epileptic spasms following perinatal brain injury. Recent studies have implicated reduced levels of Insulin-like Growth Factor 1 (IGF-1) in these patients' brains. Other studies have reported low levels of the inhibitory neurotransmitter, GABA. In the TTX brain injury model of epileptic spasms, we undertook experiments to evaluate the impact of IGF-1 deficiencies on neocortical interneurons and their role in spasms. Quantitative immunohistochemical analyses revealed that neocortical interneurons that express glutamic acid decarboxylase, parvalbumin, or synaptotagmin 2 co-express IGF-1. In epileptic rats, expression of these three interneuron markers were reduced in the neocortex. …
Analysis Of 1,25-Dihydroxyvitamin D Genomic Action In Human Enteroids And Colonoids Reveals Multiple Regulatory Effects Of Vitamin D In Human Intestinal Physiology, Zachary K Criss, Kali Deans-Fielder, James C Fleet, Sylvia Christakos, Noah Shroyer
Analysis Of 1,25-Dihydroxyvitamin D Genomic Action In Human Enteroids And Colonoids Reveals Multiple Regulatory Effects Of Vitamin D In Human Intestinal Physiology, Zachary K Criss, Kali Deans-Fielder, James C Fleet, Sylvia Christakos, Noah Shroyer
Faculty, Staff and Students Publications
Introduction: The intestine has molecular and functional diversity across the proximal-distal and the crypt-villus axes, so it is imperative to determine the common and compartment-specific molecular actions of vitamin D. However, very little work on vitamin D mediated gene regulation has been done in normal human intestine. Here, we examined the impact of 1,25-dihydroxyvitamin D (1,25(OH)2D3) on cultures of human intestinal epithelium derived from duodenum (Dd) and distal colon (Co) biopsies of 6 subjects per tissue.
Methods: Human enteroids and colonoids were cultured for 3 days to promote a stem cell phenotype (undifferentiated, Un) or to induce differentiation (Diff) and …
Outcomes Of Retained Gastrointestinal Debris During Upper Endoscopy, Jake Sheraj Jacob, Jeffrey Than, Christine Tang, Joseph Cano, Rehman Sheikh, Sharon Wolfson, Aaron P Thrift, Uma Munnur, Robert J Sealock
Outcomes Of Retained Gastrointestinal Debris During Upper Endoscopy, Jake Sheraj Jacob, Jeffrey Than, Christine Tang, Joseph Cano, Rehman Sheikh, Sharon Wolfson, Aaron P Thrift, Uma Munnur, Robert J Sealock
Faculty, Staff and Students Publications
Background and study aims: Gastrointestinal debris retention (GIDR) during endoscopy can result in aborted procedures, intubation, and aspiration. GIDR has increased significance with uptake of glucagon-like peptide-1 receptor agonist (GLP-1RA) use. Outcome analysis is vital to risk-stratify patients with GIDR during endoscopy. Our study evaluated the effect of GIDR on endoscopic complications.
Patients and methods: This was a retrospective review of patients who underwent endoscopy between May 2016 and December 2021 with documented GIDR. The study included 138 patients with GIDR and 275 controls. Propensity score matching between patients with GIDR and controls was performed in a 1:2 ratio based …
Regional Anesthesia For Orthopedic Surgeries: A Guide For Upper And Lower Extremity Procedures, Jamal Hasoon, Anvinh Nguyen
Regional Anesthesia For Orthopedic Surgeries: A Guide For Upper And Lower Extremity Procedures, Jamal Hasoon, Anvinh Nguyen
Faculty, Staff and Students Publications
Purpose of the review: Regional anesthesia has become a cornerstone in orthopedic surgeries due to its ability to provide precise, localized pain relief while minimizing the systemic risks associated with general anesthesia and opioid use. This review aims to provide a compact guide for anesthesia trainees and practicing anesthesiologists on the use of regional anesthesia techniques for upper and lower extremity procedures.
Summary: This guide outlines the main regional block options for orthopedic surgeries, detailing the targeted anatomy, common surgical indications, important adjacent structures, and potential complications for each technique. Key blocks for upper extremity surgeries include interscalene, supraclavicular, infraclavicular, …
Understanding The Landscape Of Lumbar Epidural Steroid Injections: A Review Of Interlaminar, Transforaminal, And Caudal Approaches, Tommy Li, Cynthia Gonzalez, Jamie Provost, Jamal Hasoon, Anvinh Nguyen
Understanding The Landscape Of Lumbar Epidural Steroid Injections: A Review Of Interlaminar, Transforaminal, And Caudal Approaches, Tommy Li, Cynthia Gonzalez, Jamie Provost, Jamal Hasoon, Anvinh Nguyen
Faculty, Staff and Students Publications
Purpose of the review: Lumbar epidural steroid injections (ESIs) have been used for decades for managing lumbosacral pain, particularly in patients with radiculopathy and chronic low back pain. Despite frequent use, there remains debate regarding their overall effectiveness, fueled by variability in physician technique and differing opinions on the optimal approach. This narrative review examines the three primary methods of lumbar ESI administration-transforaminal, interlaminar, and caudal-to evaluate their respective advantages, limitations, and clinical applications.
Summary: Each ESI technique offers unique benefits and potential risks. The transforaminal approach provides targeted delivery to affected nerve roots but is associated with higher risks …
The Department Of Cardiovascular Anesthesia Of The Texas Heart Institute: An Informal History, John R Cooper, N Martin Giesecke
The Department Of Cardiovascular Anesthesia Of The Texas Heart Institute: An Informal History, John R Cooper, N Martin Giesecke
Faculty, Staff and Students Publications
No abstract provided.
From Toasted Skin To Tumors: A Retrospective Nationwide Case-Control Analysis Investigating The Link Between Erythema Ab Igne And Various Skin Cancers, Kritin K Verma, Maitreyi Dhavala, Jalyn Vo, Tejas P Joshi, Ida F Orengo, Michelle B Tarbox, Daniel P Friedmann, Zeena Y Nawas
From Toasted Skin To Tumors: A Retrospective Nationwide Case-Control Analysis Investigating The Link Between Erythema Ab Igne And Various Skin Cancers, Kritin K Verma, Maitreyi Dhavala, Jalyn Vo, Tejas P Joshi, Ida F Orengo, Michelle B Tarbox, Daniel P Friedmann, Zeena Y Nawas
Faculty, Staff and Students Publications
This study investigated erythema ab igne (EAI) and comorbid skin cancers. Each EAI case, searched by ICD-10-CM code L59.0 in the All of Us database, was compared to four controls, matched by sex at birth, age, and self-identified race/ethnicity. Demographics and skin cancer comorbidities were assessed with odds ratios (ORs) and 95% confidence intervals (CIs) using Wald’s method. EAI was most prevalent between 60 and 70 years of age. A female-to-male ratio of 1:1 was observed between ages 40 and 50. EAI patients had a statistically significant increased risk of basal cell carcinoma (OR, 10.67; 95% CI, 2.76–41.30; P < 0.001), squamous cell carcinoma (OR, 27.84; 95% CI, 1.42–545.59; P …
Safety Information And Adverse Event Profiles Of Ultraviolet Nail Lamps: A Commercial Website Analysis, Kritin K Verma, Melissa Marchan-Martinez, Daniel P Friedmann, Michelle B Tarbox, Ida F Orengo
Safety Information And Adverse Event Profiles Of Ultraviolet Nail Lamps: A Commercial Website Analysis, Kritin K Verma, Melissa Marchan-Martinez, Daniel P Friedmann, Michelle B Tarbox, Ida F Orengo
Faculty, Staff and Students Publications
No abstract provided.
The Utility Of Brain Biomarkers In Predicting Survival And Neurological Outcomes In Pediatric Patients After Cardiac Arrest: A Systematic Review And Meta-Analysis, Halla Kamińska, Krzysztof Kurek, Michał Zembala, Sagar Galwankar, Monika Tomaszewska, Shraddha Singh, Nicola Luigi Bragazzi, Michał Pruc, Basar Cander, Francesco Chirico, Amelia Rizzo, Jacek Kubica, Ayman El-Menyar, Anne Lepetit, Pawel Patrzylas, Zubaid Rafique, W Frank Peacock, Łukasz Szarpak
The Utility Of Brain Biomarkers In Predicting Survival And Neurological Outcomes In Pediatric Patients After Cardiac Arrest: A Systematic Review And Meta-Analysis, Halla Kamińska, Krzysztof Kurek, Michał Zembala, Sagar Galwankar, Monika Tomaszewska, Shraddha Singh, Nicola Luigi Bragazzi, Michał Pruc, Basar Cander, Francesco Chirico, Amelia Rizzo, Jacek Kubica, Ayman El-Menyar, Anne Lepetit, Pawel Patrzylas, Zubaid Rafique, W Frank Peacock, Łukasz Szarpak
Faculty, Staff and Students Publications
Background: Cardiac arrest in children is associated with high morbidity and mortality, primarily due to neurological injury. Biomarkers linked to brain injury, released into circulation from compromised elements of the neurovascular unit, act as significant prognostic indicators in patients suffering from hypoxic-ischemic brain injury (HIBI) subsequent to the restoration of spontaneous circulation (ROSC) after pediatric cardiac arrest. The aim of this systematic review and meta-analysis is to evaluate the prognostic utility of brain injury biomarkers in predicting neurological outcomes and survival in patients following cardiac arrest in the pediatric population.
Methods: Bibliographic databases (PubMed, the Cochrane Library, and Embase) were …
Zic1 Is A Context-Dependent Medulloblastoma Driver In The Rhombic Lip, John J Y Lee, Ran Tao, Zhen You, Parthiv Haldipur, Anders W Erickson, Hamza Farooq, Liam D Hendriske, Namal Abeysundara, Cory M Richman, Evan Y Wang, Neha Das Gupta, Jennifer Hadley, Melissa Batts, Christopher W Mount, Xiaochong Wu, Alex Rasnitsyn, Swneke Bailey, Florence M G Cavalli, Sorana Morrissy, Livia Garzia, Kulandaimanuvel Antony Michealraj, Abhi Visvanathan, Vernon Fong, Jonelle Palotta, Raul Suarez, Bryn G Livingston, Miao Liu, Betty Luu, Craig Daniels, James Loukides, Anne Bendel, Pim J French, Johan M Kros, Andrey Korshunov, Marcel Kool, Fernando Chico Ponce De León, Mario Perezpeña-Diazconti, Boleslaw Lach, Sheila K Singh, Sarah E S Leary, Byung-Kyu Cho, Seung-Ki Kim, Kyu-Chang Wang, Ji-Yeoun Lee, Teiji Tominaga, William A Weiss, Joanna J Phillips, Shizhong Dai, Gelareh Zadeh, Ali G Saad, László Bognár, Almos Klekner, Ian F Pollack, Ronald L Hamilton, Young-Shin Ra, Wieslawa A Grajkowska, Marta Perek-Polnik, Reid C Thompson, Anna M Kenney, Michael K Cooper, Stephen C Mack, Nada Jabado, Mathieu Lupien, Marco Gallo, Vijay Ramaswamy, Mario L Suva, Hiromichi Suzuki, Kathleen J Millen, L Frank Huang, Paul A Northcott, Michael D Taylor
Zic1 Is A Context-Dependent Medulloblastoma Driver In The Rhombic Lip, John J Y Lee, Ran Tao, Zhen You, Parthiv Haldipur, Anders W Erickson, Hamza Farooq, Liam D Hendriske, Namal Abeysundara, Cory M Richman, Evan Y Wang, Neha Das Gupta, Jennifer Hadley, Melissa Batts, Christopher W Mount, Xiaochong Wu, Alex Rasnitsyn, Swneke Bailey, Florence M G Cavalli, Sorana Morrissy, Livia Garzia, Kulandaimanuvel Antony Michealraj, Abhi Visvanathan, Vernon Fong, Jonelle Palotta, Raul Suarez, Bryn G Livingston, Miao Liu, Betty Luu, Craig Daniels, James Loukides, Anne Bendel, Pim J French, Johan M Kros, Andrey Korshunov, Marcel Kool, Fernando Chico Ponce De León, Mario Perezpeña-Diazconti, Boleslaw Lach, Sheila K Singh, Sarah E S Leary, Byung-Kyu Cho, Seung-Ki Kim, Kyu-Chang Wang, Ji-Yeoun Lee, Teiji Tominaga, William A Weiss, Joanna J Phillips, Shizhong Dai, Gelareh Zadeh, Ali G Saad, László Bognár, Almos Klekner, Ian F Pollack, Ronald L Hamilton, Young-Shin Ra, Wieslawa A Grajkowska, Marta Perek-Polnik, Reid C Thompson, Anna M Kenney, Michael K Cooper, Stephen C Mack, Nada Jabado, Mathieu Lupien, Marco Gallo, Vijay Ramaswamy, Mario L Suva, Hiromichi Suzuki, Kathleen J Millen, L Frank Huang, Paul A Northcott, Michael D Taylor
Faculty, Staff and Students Publications
Transcription factors are frequent cancer driver genes, exhibiting noted specificity based on the precise cell of origin. We demonstrate that ZIC1 exhibits loss-of-function (LOF) somatic events in group 4 (G4) medulloblastoma through recurrent point mutations, subchromosomal deletions and mono-allelic epigenetic repression (60% of G4 medulloblastoma). In contrast, highly similar SHH medulloblastoma exhibits distinct and diametrically opposed gain-of-function mutations and copy number gains (20% of SHH medulloblastoma). Overexpression of ZIC1 suppresses the growth of group 3 medulloblastoma models, whereas it promotes the proliferation of SHH medulloblastoma precursor cells. SHH medulloblastoma ZIC1 mutants show increased activity versus wild-type ZIC1, whereas G4 medulloblastoma …
Visual Acuity, Full-Field Stimulus Thresholds, And Electroretinography For 4 Years In The Rate Of Progression Of Ush2a-Related Retinal Degeneration (Rush2a) Study, David G Birch, Peiyao Cheng, Maureen G Maguire, Jacque L Duncan, Allison R Ayala, Janet K Cheetham, Nicole R Doucet, Todd A Durham, Abigail T Fahim, Frederick L Ferris, Rachel M Huckfeldt, Michele Melia, Michel Michaelides, Mark E Pennesi, José-Alain Sahel, Katarina Stingl, Ajoy Vincent, Christina Y Weng
Visual Acuity, Full-Field Stimulus Thresholds, And Electroretinography For 4 Years In The Rate Of Progression Of Ush2a-Related Retinal Degeneration (Rush2a) Study, David G Birch, Peiyao Cheng, Maureen G Maguire, Jacque L Duncan, Allison R Ayala, Janet K Cheetham, Nicole R Doucet, Todd A Durham, Abigail T Fahim, Frederick L Ferris, Rachel M Huckfeldt, Michele Melia, Michel Michaelides, Mark E Pennesi, José-Alain Sahel, Katarina Stingl, Ajoy Vincent, Christina Y Weng
Faculty, Staff and Students Publications
PURPOSE: To describe progression of best-corrected visual acuity (BCVA), full-field stimulus thresholds (FST), and electroretinography (ERG) over 4 years in the
DESIGN: Prospective natural history study.
PARTICIPANTS: Participants (n = 105) with biallelic disease-causing sequence variants in USH2A and BCVA letter scores of ≥54 were included.
METHODS: BCVA, FST, fundus-guided microperimetry, static perimetry, and spectral domain OCT were performed annually and ERG at baseline and 4 years only. Mixed effects models were used to estimate annual rates of change with 95% confidence intervals. Associations of change from baseline to 4 years between BCVA, FST, ERG, and other metrics were assessed …