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Articles 48121 - 48150 of 1791776
Full-Text Articles in Entire DC Network
Rethinking Remimazolam: Reconciling Regulatory Positioning With Clinical Reality, Theodora Wingert, J Robert Sneyd
Rethinking Remimazolam: Reconciling Regulatory Positioning With Clinical Reality, Theodora Wingert, J Robert Sneyd
More Faculty of Health Research
Goyal and colleagues share a large United States health system’s experience of 9431 cases of real-world remimazolam use, offering insight into current practice patterns, recovery times, and accurate adverse event rates. The authors report rapid recovery after remimazolam, including shorter time to post-anaesthesia care unit discharge readiness and faster return to baseline on the Richmond Agitation–Sedation Scale following flumazenil administration, with a critical event rate of 0.7%. Interesting practice patterns were observed, including frequent co-administration with other anaesthetics rather than as a sole agent. Although only licensed for procedural sedation in the United States, the authors reported extensive use of …
Safe Practice Guidance And Brief Manual Revised, Becky Stancer, Rudi Dallos
Safe Practice Guidance And Brief Manual Revised, Becky Stancer, Rudi Dallos
School of Law, Humanities and Social Sciences
Revised and updated practice manual for SAFE2 website
Policy Brief For All-Party Parliamentary Group (Appg) On Autism: National Implementation Of Systemic Family Therapy For Autism, Becky Stancer
Policy Brief For All-Party Parliamentary Group (Appg) On Autism: National Implementation Of Systemic Family Therapy For Autism, Becky Stancer
School of Law, Humanities and Social Sciences
Addressing the Crisis of Premature Mortality and Family Trauma in Autism through Systemic Intervention.
The Role Of Conflicting Cognitions In Changing Hazardous Consumer Behaviour, Krzysztof Kubacki, Krzysztof Stepaniuk, Dariusz Siemieniako, Karolina Małagocka, Chrystyna Misiewicz
The Role Of Conflicting Cognitions In Changing Hazardous Consumer Behaviour, Krzysztof Kubacki, Krzysztof Stepaniuk, Dariusz Siemieniako, Karolina Małagocka, Chrystyna Misiewicz
Plymouth Business School
Despite diverse approaches deployed worldwide to address harmful alcohol consumption, understanding binge drinking as a hazardous consumption behaviour remains a pressing issue in marketing and consumer behaviour research. Thus, this study examines the role of cognitive dissonance – and its absence – in facilitating transitions between different phases of binge drinking. Drawing on 38 biographical interviews conducted in Australia, the Netherlands, Poland, and the United States, we identify six instances where cognitive dissonance, or the absence thereof, contributes to the transition into, between, and out of phases of binge drinking. By examining conflicting cognitions that emerge from the gaps between …
Educational Interventions To Prepare Undergraduate Students For Out-Of-Hours Practice As A Newly Qualified Doctor In The United Kingdom: A Scoping Review, Alex Gordon, Molly Parkinson, Rosanna Watts, Kamal El-Badawi, Erin Dawson, Rohan Chiktara, Lorna Burns, Nicola Brennan
Educational Interventions To Prepare Undergraduate Students For Out-Of-Hours Practice As A Newly Qualified Doctor In The United Kingdom: A Scoping Review, Alex Gordon, Molly Parkinson, Rosanna Watts, Kamal El-Badawi, Erin Dawson, Rohan Chiktara, Lorna Burns, Nicola Brennan
Peninsula Dental School
Background: In the United Kingdom (UK), newly qualified doctors are routinely responsible for out-of-hours (OOH) care, often managing acutely unwell patients with limited supervision. Despite national recommendations encouraging OOH experience during medical school training, there is no formal curriculum for OOH practice. Objectives: This scoping review aimed to identify the range of educational interventions designed to prepare UK medical students for OOH clinical responsibilities and assess their reported effects on perceived and actual preparedness. Methods: Following Joanna Briggs Institute methodology, a systematic search of seven databases and grey literature sources was conducted. Eligible studies involved UK-based medical students and reported …
A Pilot Study Assessing The Oral Microbiome In Women Of Menopausal Age: Do Oral Nitrate–Reducing Bacteria Play A Role?, Katie Muddiman, Amazon Doble, Abish Stephen, Raul Bescos Garcia, Charlotte Illsley, Tomas Nicholas, Sally Hanks, Lisa Du Toit, Zoe Brookes
A Pilot Study Assessing The Oral Microbiome In Women Of Menopausal Age: Do Oral Nitrate–Reducing Bacteria Play A Role?, Katie Muddiman, Amazon Doble, Abish Stephen, Raul Bescos Garcia, Charlotte Illsley, Tomas Nicholas, Sally Hanks, Lisa Du Toit, Zoe Brookes
Peninsula Dental School
Introduction The links between oral health and female ageing are poorly understood, but many changes occur in the oral cavity of menopausal women that affect quality of life, and few current oral health interventions consider gender as part of their approach. The aim of this pilot study was to test the hypothesis that the oral microbiome and microenvironment change during female ageing and are thus worthy of further consideration both experimentally and clinically. Methods This observational pilot study retrospectively assessed women aged 18 to 89 years (n = 60) attending a UK primary care dental school facility for blood pressure …
Seeing Anxiety: Ecological Video Ethnography And Simulation To Understand Anxiety And Decision-Making In Dental Care, Mona Nasser, Hannah Drayson, Sally Hanks, Nicholas Peres, Michael Punt
Seeing Anxiety: Ecological Video Ethnography And Simulation To Understand Anxiety And Decision-Making In Dental Care, Mona Nasser, Hannah Drayson, Sally Hanks, Nicholas Peres, Michael Punt
Peninsula Dental School
BACKGROUND: Dental anxiety is a widespread barrier to care, often contributing to appointment avoidance, treatment disruption, and emotional strain for both patients and clinicians. While extensively studied as a psychological trait, less attention has been paid to how anxiety manifests situationally and relationally, through non-verbal, affective, and spatial cues within clinical encounters. Moreover, in certain contexts, such affective signals can intersect with decision-making processes, shaping how patients interpret, engage with, or withdraw from clinical choices.
OBJECTIVE: To explore how anxiety manifests within the micro-choreography of dental encounters, develop a taxonomy of 'anxious tells', and assess the utility of ecological video …
Long Covid And Cardiovascular Diseases Among U.S. Adults: Results From The U.S. Medical Expenditure Panel Survey, Geoffrey Y Zhang, John C Lin, Dang Nguyen, Sameed Ahmed M Khatana, Thomas P Giordano
Long Covid And Cardiovascular Diseases Among U.S. Adults: Results From The U.S. Medical Expenditure Panel Survey, Geoffrey Y Zhang, John C Lin, Dang Nguyen, Sameed Ahmed M Khatana, Thomas P Giordano
Faculty, Staff and Students Publications
Objective: Long COVID is associated with persistent symptoms including cardiovascular complications; however, the epidemiology and directionality of this association remain unclear.
Methods: Utilizing a retrospective cohort study design with cross-sectional analyses, 8,332 respondents aged 18 and older from the 2022 Medical Expenditure Panel Survey (MEPS) who had a prior COVID-19 infection, were analyzed to determine the temporal association between long COVID and cardiovascular disease (CVD), modeling each as both outcome and exposure in separate analyses.
Results: Long COVID was associated with any CVD diagnosis (OR 1.37; 95% CI: 1.05-1.80), specifically angina (OR 1.81; 95% CI: 1.18-2.77) and myocardial infarction (OR …
Safety And Efficacy Of Vadadustat Versus Darbepoetin Alfa For Chronic Kidney Disease-Related Anemia In Patients Receiving Dialysis By Baseline Erythropoiesis-Stimulating Agent Dose, Alan Jardine, Steven K Burke, Wenli Luo, Todd Minga, Mark J Sarnak, Wolfgang C Winkelmayer, Rajiv Agarwal, Glenn M Chertow, Kai-Uwe Eckardt, Mark J Koury
Safety And Efficacy Of Vadadustat Versus Darbepoetin Alfa For Chronic Kidney Disease-Related Anemia In Patients Receiving Dialysis By Baseline Erythropoiesis-Stimulating Agent Dose, Alan Jardine, Steven K Burke, Wenli Luo, Todd Minga, Mark J Sarnak, Wolfgang C Winkelmayer, Rajiv Agarwal, Glenn M Chertow, Kai-Uwe Eckardt, Mark J Koury
Faculty, Staff and Students Publications
Introduction: Erythropoiesis-stimulating agents (ESAs) and iron supplementation are standard treatments for chronic kidney disease (CKD)-related anemia. Targeting higher hemoglobin values in CKD increases cardiovascular risk. Whether the increased risk is from higher ESA doses or higher hemoglobin levels is uncertain, but alternative therapies are sought for patients requiring high ESA doses. Phase 3 INNO2VATE trials in patients with dialysis-dependent CKD (DD-CKD) demonstrated vadadustat's noninferiority compared with darbepoetin alfa. To determine vadadustat's potential to treat anemia, including in patients requiring high ESA doses, its safety and efficacy were compared with those of darbepoetin alfa across prespecified baseline ESA dose subgroups in …
Mindful Diagnostics In Culture-Negative Endocarditis: Early Noninvasive Diagnosis Of Tropheryma Whipplei By Plasma Microbial Cell-Free Dna, Ashita Jain, Sarwat Khalil, Muhammad R Sohail, Laura C Lelenwa, Enrique Garcia-Sayan, Kenneth K Liao, Ahmed Hamdi, Todd Lasco, Mayar Al Mohajer
Mindful Diagnostics In Culture-Negative Endocarditis: Early Noninvasive Diagnosis Of Tropheryma Whipplei By Plasma Microbial Cell-Free Dna, Ashita Jain, Sarwat Khalil, Muhammad R Sohail, Laura C Lelenwa, Enrique Garcia-Sayan, Kenneth K Liao, Ahmed Hamdi, Todd Lasco, Mayar Al Mohajer
Faculty, Staff and Students Publications
Tropheryma whipplei was identified by plasma microbial cell-free DNA sequencing within 4 days in severe culture-negative endocarditis after antibiotics had already been started. The result supported earlier diagnostic clarification and antimicrobial de-escalation before valve pathology was available, illustrating a practical diagnostic-stewardship role for noninvasive sequencing in high-acuity endocarditis.
Editorial: New Insights On Vascular And Metabolic Diabetic Complications, Hua Mao, John D Imig, Ricardo Espinosa-Tanguma
Editorial: New Insights On Vascular And Metabolic Diabetic Complications, Hua Mao, John D Imig, Ricardo Espinosa-Tanguma
Faculty, Staff and Students Publications
No abstract provided.
Comparing Rotational Thromboelastometry And Standard Coagulation Assays For Predicting Intraoperative Bleeding In Pediatric Liver Transplantation, Kirby Deshotels, Trung Nguyen, Jun Teruya, Muhammed Umair M Mian, Kelby Fuller, Sanjiv Harpavat, Anna Banc-Husu, Amir Navaei, John Goss, Moreshwar Desai, Arun Saini
Comparing Rotational Thromboelastometry And Standard Coagulation Assays For Predicting Intraoperative Bleeding In Pediatric Liver Transplantation, Kirby Deshotels, Trung Nguyen, Jun Teruya, Muhammed Umair M Mian, Kelby Fuller, Sanjiv Harpavat, Anna Banc-Husu, Amir Navaei, John Goss, Moreshwar Desai, Arun Saini
Faculty, Staff and Students Publications
Background: Utility of preoperative rotational thromboelastometry (ROTEM) over standard coagulation assays (SCAs) in predicting intraoperative bleeding during orthotopic liver transplantation (OLT) in children with liver failure (LF) remains unclear.
Methods: In this single-center retrospective cohort of pediatric OLT recipients, we compared the predictive values of preoperative ROTEM parameters (intrinsic pathway (INTEM) maximum clot firmness (MCF), extrinsic pathway (EXTEM) clotting time (CT), INTEM CT, and fibrinogen-based (FIBTEM) MCF) and the corresponding SCAs (platelet count, international normalized ratio (INR), activated partial thromboplastin time (aPTT), and fibrinogen level, respectively) for significant intraoperative bleeding (blood loss of > 22 mL/kg; i.e., ≥ 85th percentile for …
Definitions Of Arginine Availability: A Critical Metabolic Marker Of Physiological Processes, Mustafa Tosur, Farook Jahoor, Ashok Balasubramanyam
Definitions Of Arginine Availability: A Critical Metabolic Marker Of Physiological Processes, Mustafa Tosur, Farook Jahoor, Ashok Balasubramanyam
Faculty, Staff and Students Publications
No abstract provided.
Modulation Of Corneal Sensory Processing And Pain Responses By Dry Eye And Corneal Wounding, Ebru Yaman, Yangluowa Qu, Kaylin C Arpaia, Fairouz Elsaeidi, Uma Lakshmi Balakrishnan, Lance He, Henry Skrehot, Jehan Alam, Rui Chen, Mary Ann Stepp, Cintia S De Paiva, Stephen C Pflugfelder
Modulation Of Corneal Sensory Processing And Pain Responses By Dry Eye And Corneal Wounding, Ebru Yaman, Yangluowa Qu, Kaylin C Arpaia, Fairouz Elsaeidi, Uma Lakshmi Balakrishnan, Lance He, Henry Skrehot, Jehan Alam, Rui Chen, Mary Ann Stepp, Cintia S De Paiva, Stephen C Pflugfelder
Faculty, Staff and Students Publications
Background: Dry eye disease (DED) is a multifactorial disorder of the ocular surface in which tear film instability, epithelial barrier disruption, and neurosensory dysfunction contribute to symptom generation. Although several contributing factors have been identified, how different forms of ocular surface stress affect sensory pathways and behavioral responses remains unclear.
Purpose: This study aimed to evaluate corneal barrier function, sensory responses, and pain-related behaviors across acute and chronic dry eye and corneal injury models, and to assess stimulus-specific responses associated with TRPV1 and TRPM8 mediated pathways.
Methods: Female C57BL/6 J wild type and Mmp9KO mice were evaluated in acute desiccating …
Editorial: Advances In Phage Applications: Deciphering Phage Biological And Ecological Mechanisms Through Metagenomics, Tasha M Santiago-Rodriguez, Gary A Toranzos
Editorial: Advances In Phage Applications: Deciphering Phage Biological And Ecological Mechanisms Through Metagenomics, Tasha M Santiago-Rodriguez, Gary A Toranzos
Faculty, Staff and Students Publications
No abstract provided.
Helicobacter Pylori And Cancer: What's The Link?, Elettra Merola, Giovanni Mario Pes, David Yates Graham, Maria Pina Dore
Helicobacter Pylori And Cancer: What's The Link?, Elettra Merola, Giovanni Mario Pes, David Yates Graham, Maria Pina Dore
Faculty, Staff and Students Publications
Helicobacter pylori (H. pylori) is a human bacterial pathogen that causes one of the most common chronic bacterial infections worldwide. The microorganism has been classified by the International Agency for Research on Cancer as a Group I carcinogen. While the etiological link to gastric cancer is well established, the precise molecular and cellular mechanisms driving this transformation are highly complex and incompletely understood. Fundamentally, the infection results from the chronic presence of acute on chronic gastric mucosal inflammation. H. pylori pathogenicity is increased by bacterial virulence factors including the cytotoxin-associated gene A (CagA) and Vacuolating cytotoxin A (VacA) …
Genomic And Structural Analysis Of Major Antigenic Proteins’ Variability In The Human Relapsing Fever Spirochete Borrelia Persica, Dor Shwartz, Yaarit Nachum-Biala, Reinhard K Straubinger, Ofir Segev, Asaf Levy, Job E Lopez, Gad Baneth
Genomic And Structural Analysis Of Major Antigenic Proteins’ Variability In The Human Relapsing Fever Spirochete Borrelia Persica, Dor Shwartz, Yaarit Nachum-Biala, Reinhard K Straubinger, Ofir Segev, Asaf Levy, Job E Lopez, Gad Baneth
Faculty, Staff and Students Publications
Antigenic variation enables immune evasion of pathogens, yet the mechanisms for the rapid change in their antigens without loss of structural and functional features are not fully known. Tick-borne relapsing fever (TBRF) spirochetes of the genus Borrelia can be used as a model because their variable major proteins (Vmps) drive antigenic variation followed by recurrent waves of bacteremia. In this study we generated the genome of Borrelia persica LMU-C01 and evaluated Vmp structure across relapsing fever Borrelia species. Borrelia persica was found to have a genome of 1.7Mb with one linear chromosome, 12 linear and one circular plasmids. Telomeric hairpin …
Hybrid Sars-Cov-2 Immunity Among Frontline Workers In A High-Tourism Setting: A Community-Based Serosurvey In Ambergris Caye, Belize, June 2022, Oluwadara Okeremi, Ella Hawes, Anh N Ly, Russell Manzanero, Sarah M Gunter, Shannon E Ronca, Allison Lino, Allyson Hidalgo, Meghan Si, Allison Stewart-Ruano, Adriana Maliga, Eric J Nilles, Gerhaldine Morazan, Kristy O Murray
Hybrid Sars-Cov-2 Immunity Among Frontline Workers In A High-Tourism Setting: A Community-Based Serosurvey In Ambergris Caye, Belize, June 2022, Oluwadara Okeremi, Ella Hawes, Anh N Ly, Russell Manzanero, Sarah M Gunter, Shannon E Ronca, Allison Lino, Allyson Hidalgo, Meghan Si, Allison Stewart-Ruano, Adriana Maliga, Eric J Nilles, Gerhaldine Morazan, Kristy O Murray
Faculty, Staff and Students Publications
Tourism is central to Belize's economy, yet the influx of international travelers may contribute to infectious disease introduction and transmission among local workers, including SARS-CoV-2. In June 2022, we conducted a cross-sectional seroepidemiologic study among tourism and government workers in the tropical island tourism center of Ambergris Caye, Belize. The goal of this study was to determine SARS-CoV-2 antibody prevalence for both vaccination (anti-spike protein) and natural infection (anti-nucleocapsid protein), vaccine uptake, history of COVID-like symptoms, and risks for infection two years into the pandemic. Workers from 30 hotels and government agencies were enrolled. Participants completed questionnaires to capture demographics, …
Discovery Of Genetic Susceptibility Variants In Pediatric And Adult Ependymoma, Joshua D Strauss, Priya B Shetty, Spiridon Tsavachidis, Jinyoung Byun, Stephen C Mack, Xiao Xiangjun, Terri S Armstrong, Mark R Gilbert, (On Behalf Of Nci-Connect);, Lisa Mirabello, Smita Bhatia, Wendy M Leisenring, Lindsay M Morton, Gregory T Armstrong, Jon Foss-Skiftesvik, Christian Munch Hagen, Jonas Bybjerg-Grauholm, (On Behalf Of Gicc), Manel Ghozal, Audrey Bonaventure, Jacqueline Clavel, Melissa L Bondy, Christopher I Amos, Thanh T Hoang, Michael E Scheurer
Discovery Of Genetic Susceptibility Variants In Pediatric And Adult Ependymoma, Joshua D Strauss, Priya B Shetty, Spiridon Tsavachidis, Jinyoung Byun, Stephen C Mack, Xiao Xiangjun, Terri S Armstrong, Mark R Gilbert, (On Behalf Of Nci-Connect);, Lisa Mirabello, Smita Bhatia, Wendy M Leisenring, Lindsay M Morton, Gregory T Armstrong, Jon Foss-Skiftesvik, Christian Munch Hagen, Jonas Bybjerg-Grauholm, (On Behalf Of Gicc), Manel Ghozal, Audrey Bonaventure, Jacqueline Clavel, Melissa L Bondy, Christopher I Amos, Thanh T Hoang, Michael E Scheurer
Faculty, Staff and Students Publications
Background: Ependymoma is a malignancy of the neuroepithelium-derived ependyma that lines the spinal cord and ventricles of the brain, occurring most frequently in young children and older adults. Genetic susceptibility to ependymoma has proven difficult to assess due to disease rarity.
Methods: We performed genome-wide association studies (GWAS) of 478 ependymoma patients and 4,841 disease-free controls of European ancestry. Ependymoma patients consisted of 117 children (< 18 years old) with whole-genome sequencing (WGS), 142 children with genotyping, and 219 adults (≥18 years old) with genotyping. Genotyped samples were imputed using the 1,000 Genomes Project as the reference panel and underwent quality control filtering. The GWAS was performed separately by age group and technology (genotyped or WGS). GWAS variants were considered significant at P < 5 × 10-8.
Results: Among pediatric subjects with WGS data, we identified a significant intronic variant in EDIL3 (rs149378, P = 1.9 × 10-8) and a nearly significant intronic variant in LHX4 (rs79008224, P = 7.2 …
Δnp63 Defines An Exocrine-Committed Subset Of Murine Pancreatic Progenitor Cells, Katarina Coolens, Melissa Van Der Vliet, Jente Van Campenhout, Natalia Del Pozo, Alejo Torres-Cano, Catharina Olsen, Jianming Xu, Rose-Anne Romano, Heiko Lickert, Meritxell Rovira, Isabelle Houbracken, Jonathan Baldan, Francisco X Real, Francesca M Spagnoli, Ilse Rooman
Δnp63 Defines An Exocrine-Committed Subset Of Murine Pancreatic Progenitor Cells, Katarina Coolens, Melissa Van Der Vliet, Jente Van Campenhout, Natalia Del Pozo, Alejo Torres-Cano, Catharina Olsen, Jianming Xu, Rose-Anne Romano, Heiko Lickert, Meritxell Rovira, Isabelle Houbracken, Jonathan Baldan, Francisco X Real, Francesca M Spagnoli, Ilse Rooman
Faculty, Staff and Students Publications
No abstract provided.
Once-Weekly Navepegritide In Children With Achondroplasia: The Approach Randomized Clinical Trial, Ravi Savarirayan, Ciara Mcdonnell, Carlos A Bacino, Daniel G Hoernschemeyer, Janet M Legare, M Jennifer Abuzzahab, Paul L Hofman, Philippe M Campeau, Josep Maria De Bergua Domingo, Leanne M Ward, Kevin Smit, Alden Smith, Meng Mao, Michael S Ominsky, Lærke C Freiberg, Aimee D Shu, Hanne B Hove
Once-Weekly Navepegritide In Children With Achondroplasia: The Approach Randomized Clinical Trial, Ravi Savarirayan, Ciara Mcdonnell, Carlos A Bacino, Daniel G Hoernschemeyer, Janet M Legare, M Jennifer Abuzzahab, Paul L Hofman, Philippe M Campeau, Josep Maria De Bergua Domingo, Leanne M Ward, Kevin Smit, Alden Smith, Meng Mao, Michael S Ominsky, Lærke C Freiberg, Aimee D Shu, Hanne B Hove
Faculty, Staff and Students Publications
Importance: Historically considered a skeletal dysplasia characterized by disproportionate short stature, achondroplasia is a condition with multisystemic effects due to the widespread expression of the fibroblast growth factor receptor 3 variant throughout the body, impacting muscle, neurological function, cardiorespiratory health, and health-related quality of life.
Objective: To evaluate the efficacy, safety, and tolerability of once-weekly navepegritide, an investigational prodrug of C-type natriuretic peptide, while assessing benefits beyond growth that may have important implications for complications and health-related quality of life in children with achondroplasia.
Design, setting, and participants: Enrollment for this pivotal phase 2b, randomized, double-blind, placebo-controlled trial (APPROACH) was …
Investigating Food-Related Behaviors In Smith-Magenis Syndrome: Tailoring A Questionnaire For A Rare Disease, Citrine Elatrash, Theresa A Wilson, Alexis C Wood, Sarah H Elsea, Stephanie Sisley
Investigating Food-Related Behaviors In Smith-Magenis Syndrome: Tailoring A Questionnaire For A Rare Disease, Citrine Elatrash, Theresa A Wilson, Alexis C Wood, Sarah H Elsea, Stephanie Sisley
Faculty, Staff and Students Publications
Purpose: Accurate measurement is essential for tracking changes in clinical outcomes. Individuals with Smith-Magenis syndrome (SMS) exhibit challenging and unique food-related behaviors. We sought to determine the best tool to capture their unique food-related behaviors.
Methods: We conducted focus groups with caregivers of individuals with SMS to evaluate two commonly used questionnaires for food-related behaviors- the Food Related Problems Questionnaire (FRPQ) and the Hyperphagia Questionnaire for Clinical Trials (HQ-CT). Based on caregiver input and clinical expertise, we adapted these existing measures into a new tool: the SMS-FRPQ. We then validated this instrument for internal consistency and concurrent validity using online …
Latent Factor Modeling Reveals Unexpected Spatial Heterogeneity In Human Alzheimer's Disease Brain Transcriptomes, Rami Al-Ouran, Chaozhong Liu, Linhua Wang, Zhijian Yu, Ying-Wooi Wan, Chaohao Gu, Xiqi Li, Gerarda Cappuccio, Mirjana Maletic-Savatic, Aleksandar Milosavljevic, Joshua M Shulman, Hu Chen, Zhandong Liu
Latent Factor Modeling Reveals Unexpected Spatial Heterogeneity In Human Alzheimer's Disease Brain Transcriptomes, Rami Al-Ouran, Chaozhong Liu, Linhua Wang, Zhijian Yu, Ying-Wooi Wan, Chaohao Gu, Xiqi Li, Gerarda Cappuccio, Mirjana Maletic-Savatic, Aleksandar Milosavljevic, Joshua M Shulman, Hu Chen, Zhandong Liu
Faculty, Staff and Students Publications
Alzheimer's disease is characterized by complex molecular and cellular heterogeneity, which complicates efforts to identify consistent biomarkers and therapeutic targets. To better characterize the heterogeneity, we applied latent factor modeling to RNA sequencing data from approximately 2,500 human Alzheimer's disease brain samples, uncovering underlying patterns in gene expression. These transcriptional groups demonstrated unique gene expression profiles related to synaptic and neuronal pathways, vasculature development, and protein folding and antigen processing. Notably, this latent factor reflects variation in spatial sampling. Adjusting for the latent factor improved the identification of differentially expressed genes in disease samples. This finding suggests that spatial heterogeneity …
The Words Community Dwelling, Spanish-Preferring Mexican/Mexican American Adults Use To Talk About Alzheimer’S Disease And Genetic Testing: Implications For Education And Outreach, Jamie C Fong, Fatima I Chavez, Karla Silos, Mirna L Arroyo-Miranda, Gabriela Castro Castro, Mark E Kunik, Joshua M Shulman, Luis D Medina
The Words Community Dwelling, Spanish-Preferring Mexican/Mexican American Adults Use To Talk About Alzheimer’S Disease And Genetic Testing: Implications For Education And Outreach, Jamie C Fong, Fatima I Chavez, Karla Silos, Mirna L Arroyo-Miranda, Gabriela Castro Castro, Mark E Kunik, Joshua M Shulman, Luis D Medina
Faculty, Staff and Students Publications
Introduction: Hispanic/Latino (H/L) adults are more likely than non-Hispanic White individuals to have Alzheimer's disease (AD), yet fewer than one in five H/L adults has apolipoprotein E (APOE) Ɛ4, underscoring gaps in understanding genetic risk across H/L heritage groups. H/L adults remain underrepresented in AD research that uses genetic data for participant stratification. To inform culturally appropriate educational materials for 16 million U.S. Spanish speakers, we identified culturally salient words Spanish-preferring H/L adults use to describe AD and genetic testing beyond APOE.
Methods: Community-residing, Spanish-preferring Mexican/Mexican American adults (n = 14) completed freelisting interviews, a method eliciting …
Highly Variable Expressivity Of A Cnv Deletion Involving Tbx4 In Three Deceased Siblings With Lung Developmental Disorder And Their Mildly Affected Mother And Grandfather, Przemyslaw Szafranski, Tomasz Gambin, Michal Kadlof, Michał Denkiewicz, Dariusz Plewczynski, Hyun Jeong Kim, Gail Deutsch, Nahir Cortes-Santiago, Salmo Raskin, Paweł Stankiewicz
Highly Variable Expressivity Of A Cnv Deletion Involving Tbx4 In Three Deceased Siblings With Lung Developmental Disorder And Their Mildly Affected Mother And Grandfather, Przemyslaw Szafranski, Tomasz Gambin, Michal Kadlof, Michał Denkiewicz, Dariusz Plewczynski, Hyun Jeong Kim, Gail Deutsch, Nahir Cortes-Santiago, Salmo Raskin, Paweł Stankiewicz
Faculty, Staff and Students Publications
Single nucleotide variants (SNVs) and copy-number variant (CNV) deletions involving TBX4 have been associated with pulmonary arterial hypertension, ischiocoxopodopatellar syndrome, and lethal lung developmental disorders (LLDDs). Thus far, all large CNV deletions encompassing entire TBX4 have been found to have arisen de novo. Here, we present a three-generation family with three neonate siblings who died within 35-66 days due to histopathologically diagnosed LLDD. Whole-genome sequencing identified an ~108-kb CNV deletion encompassing TBX4 in all three infants. The deletion was also found in their mother with a history of pneumonia and persistent thick upper airway secretions and in the maternal grandfather …
Driving Impairment In Patients With Movement Disorders: Examining The Baylor Driving Questionnaire By Objective Driving Assessment, Abhishek Lenka, Ruosha Li, Karim Makhoul, Alan Gonzalez, Rory D Mahabir, Joseph Jankovic
Driving Impairment In Patients With Movement Disorders: Examining The Baylor Driving Questionnaire By Objective Driving Assessment, Abhishek Lenka, Ruosha Li, Karim Makhoul, Alan Gonzalez, Rory D Mahabir, Joseph Jankovic
Faculty, Staff and Students Publications
Background: The development of a screening tool to identify driving impairment in patients with movement disorders is an unmet need.
Objective: To validate Baylor Driving Questionnaire for Movement Disorders (BDQMD) by objective driving assessment (ODA).
Methods: In this cross-sectional study, 142 patients with various movement disorders completed the 10-item BDQMD and of those, 25 completed ODA using the driver performance analysis system (DPAS).
Results: The mean total BDQMD score for the whole cohort was 14.7 ± 5.6 (range 10-47). Patients who underwent ODA had a mean BDQMD score of 12.8 ± 2.9. Four had minimum driving skill, 20 had average, …
A Nonlinear Relationship Of Evoked Responses Following Charge-Balanced Single-Pulse Electrical Stimulation With Varying Pulse Widths, Isabel A Danstrom, Joshua A Adkinson, Zoe Liu, Meghan E Robinson, Denise Oswalt, Garrett P Banks, Atul Maheshwari, Lu Lin, Ben Shofty, Mohammed Hasen, Alica Goldman, Eleonora Bartoli, Sarah R Heilbronner, Kelly R Bijanki
A Nonlinear Relationship Of Evoked Responses Following Charge-Balanced Single-Pulse Electrical Stimulation With Varying Pulse Widths, Isabel A Danstrom, Joshua A Adkinson, Zoe Liu, Meghan E Robinson, Denise Oswalt, Garrett P Banks, Atul Maheshwari, Lu Lin, Ben Shofty, Mohammed Hasen, Alica Goldman, Eleonora Bartoli, Sarah R Heilbronner, Kelly R Bijanki
Faculty, Staff and Students Publications
Background: Single-pulse electrical stimulation (SPES) can help guide neuromodulation therapy in an iterative process to reveal ideal circuits and degrees of engagement. Understanding the relationship between parameter input and neural output will be necessary both to build informative models of the brain's functional connectivity and to improve responses to stimulation-based neuromodulation therapies. Modulating pulse width alters the total charge delivered to neural tissue and is thought to selectively activate fibers with different diameters, potentially shifting therapeutic thresholds. The anterior cingulate cortex (ACC) and orbitofrontal cortex (OFC) are of great clinical relevance to the pathophysiology and treatment of neuropsychiatric disorders.
Objective: …
Case Report: Molecular Diagnostics And Clinical Courses Of Two Adult Spinal Pilocytic Astrocytoma Long-Term Survivors With Gtf2i::Braf Fusion, Lorenzo Argao, Pinar E Zerk, Hsiang-Chih Lu, Zied Abdullaev, Martha Quezado, Michelle L Cassidy, Bennett Mclver, Anna Choi, Marissa Panzer, Renee Tweneboah-Koduah, Lily Polskin, Marta Penas-Prado, Paul Park, Nathan Clarke, Kenneth Aldape, Jacob Mandel, Byram H Ozer
Case Report: Molecular Diagnostics And Clinical Courses Of Two Adult Spinal Pilocytic Astrocytoma Long-Term Survivors With Gtf2i::Braf Fusion, Lorenzo Argao, Pinar E Zerk, Hsiang-Chih Lu, Zied Abdullaev, Martha Quezado, Michelle L Cassidy, Bennett Mclver, Anna Choi, Marissa Panzer, Renee Tweneboah-Koduah, Lily Polskin, Marta Penas-Prado, Paul Park, Nathan Clarke, Kenneth Aldape, Jacob Mandel, Byram H Ozer
Faculty, Staff and Students Publications
Introduction: Pilocytic astrocytomas are driven by BRAF and mitogen-activated protein kinase (MAPK) alterations, typically KIAA1549::BRAF fusions. A rare GTF2I::BRAF fusion has been described, but little is known about these cases.
Case report: Here, we report two cases with GTF2I::BRAF fusions. Case 1 is a 36-year-old man initially diagnosed with myxopapillary ependymoma at the conus medullaris with three recurrences over 23 years requiring two surgeries, three rounds of radiation therapy, and one round of lapatinib/temozolomide. A distant disease focus in T3/T4 was sampled and tested with modern diagnostic techniques revealing a pilocytic astrocytoma on histology and methylation profiling. The patient has …
Suicidal Ideation In Spinocerebellar Ataxia, Levi Peppel, Ruo-Yah Lai, Christian Rummey, Puneet Opal, Jeremy D Schmahmann, Christopher M Gomez, Henry Paulson, Theresa A Zesiewicz, Susan Perlman, George Wilmot, Sarah H Ying, Chiadi U Onyike, Khalaf O Bushara, Michael D Geschwind, Karla P Figueroa, Stefan M Pulst, Sub H Subramony, Antoine Duquette, Tetsuo Ashizawa, Ali G Hamedani, Marie Y Davis, Sharan R Srinivasan, Matthew R Burns, Nadia Amokrane, Lauren R Moore, Vikram G Shakkottai, Liana S Rosenthal, Sheng-Han Kuo, Chi-Ying R Lin
Suicidal Ideation In Spinocerebellar Ataxia, Levi Peppel, Ruo-Yah Lai, Christian Rummey, Puneet Opal, Jeremy D Schmahmann, Christopher M Gomez, Henry Paulson, Theresa A Zesiewicz, Susan Perlman, George Wilmot, Sarah H Ying, Chiadi U Onyike, Khalaf O Bushara, Michael D Geschwind, Karla P Figueroa, Stefan M Pulst, Sub H Subramony, Antoine Duquette, Tetsuo Ashizawa, Ali G Hamedani, Marie Y Davis, Sharan R Srinivasan, Matthew R Burns, Nadia Amokrane, Lauren R Moore, Vikram G Shakkottai, Liana S Rosenthal, Sheng-Han Kuo, Chi-Ying R Lin
Faculty, Staff and Students Publications
Objective: Suicidal ideation has not been extensively studied in spinocerebellar ataxias (SCAs). The authors examined whether individuals with SCAs have increased suicidal ideation and related factors.
Methods: The authors studied patients with genetically confirmed SCAs enrolled in the Clinical Research Consortium for the Study of Cerebellar Ataxia cohort, examining the percentages of patients with SCA subtypes 1, 2, 3, and 6 who reported suicidal ideation and comparing findings with nationally representative data from the National Survey on Drug Use and Health (NSDUH). Clinical characteristics that may contribute to suicidal ideation in SCAs, including age, disease duration, sex, ataxia severity, depression, …
A Balancing Act: Amyloid-Β, Tau, And Excitation-Inhibition In Alzheimer's Disease, Manuel Silva-Pérez, Jeannie Chin
A Balancing Act: Amyloid-Β, Tau, And Excitation-Inhibition In Alzheimer's Disease, Manuel Silva-Pérez, Jeannie Chin
Faculty, Staff and Students Publications
A growing body of evidence shows that epileptic activity is frequently observed in patients with Alzheimer's disease (AD), implicating underlying excitatory–inhibitory imbalance. The distinction of whether the AD-epileptic phenotype represents a subset of patients or an underdiagnosed manifestation holds major therapeutic implications. Here, we quantified the excitatory–inhibitory imbalance in AD patients using magnetoencephalography and examined the relationships to AD pathophysiology—amyloid-beta and tau, and to epileptic activity. We used two metrics to quantify regional excitatory–inhibitory imbalance distinguishing between local hyperexcitability (Neural excitability, quantified by regional aperiodic spectral slope) and aberrant long-range synaptic input integration (Neural fragility, quantified by …