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Articles 54181 - 54210 of 325308

Full-Text Articles in Medicine and Health Sciences

A Single Bout Of Vigorous Intensity Exercise Enhances The Efficacy Of Rituximab Against Human Chronic Lymphocytic Leukaemia B-Cells Ex Vivo, Harrison D. Collier-Bain, Annabelle Emery, Adam J. Causer, Frankie F. Brown, Rebecca Oliver, David Dutton, Josephine Crowe, Daniel Augustine, John Graby, Shoji Leach, Rachel Eddy, Daniela Rothschild-Rodriguez, Juliet C. Gray, Mark S. Cragg, Kirstie L. Cleary, Sally Moore, James Murray, James E. Turner, John P. Campbell May 2024

A Single Bout Of Vigorous Intensity Exercise Enhances The Efficacy Of Rituximab Against Human Chronic Lymphocytic Leukaemia B-Cells Ex Vivo, Harrison D. Collier-Bain, Annabelle Emery, Adam J. Causer, Frankie F. Brown, Rebecca Oliver, David Dutton, Josephine Crowe, Daniel Augustine, John Graby, Shoji Leach, Rachel Eddy, Daniela Rothschild-Rodriguez, Juliet C. Gray, Mark S. Cragg, Kirstie L. Cleary, Sally Moore, James Murray, James E. Turner, John P. Campbell

Research outputs 2022 to 2026

Chronic lymphocytic leukaemia (CLL) is characterised by the clonal proliferation and accumulation of mature B-cells and is often treated with rituximab, an anti-CD20 monoclonal antibody immunotherapy. Rituximab often fails to induce stringent disease eradication, due in part to failure of antibody-dependent cellular cytotoxicity (ADCC) which relies on natural killer (NK)-cells binding to rituximab-bound CD20 on B-cells. CLL cells are diffusely spread across lymphoid and other bodily tissues, and ADCC resistance in survival niches may be due to several factors including low NK-cell frequency and a suppressive stromal environment that promotes CLL cell survival. It is well established that exercise bouts …


Young People's Alcohol Use In And Around Water: A Scoping Review Of The Literature, Renee N. Carey, Gemma Crawford, Jonine Jancey, Tina Lam, Lauren Nimmo, Gina Trapp, Christina Pollard, Paula Hooper, Justine E. Leavy May 2024

Young People's Alcohol Use In And Around Water: A Scoping Review Of The Literature, Renee N. Carey, Gemma Crawford, Jonine Jancey, Tina Lam, Lauren Nimmo, Gina Trapp, Christina Pollard, Paula Hooper, Justine E. Leavy

Research outputs 2022 to 2026

Issues: The surrounding social and commercial context, including alcohol advertising, heavily influences alcohol consumption. Alcohol use is a major risk factor for both fatal and non-fatal drowning, particularly for young people. Approach: We conducted a scoping review to explore the peer-reviewed literature on the use of alcohol by young people (aged 15–34 years) in the context of aquatic environments. Five electronic academic databases were searched for English-language studies conducted in high-income countries and published in the last 15 years (since 2008). The MetaQAT framework was used to assess methodological quality of included studies. Key Findings: The review included a total …


Diagnostic Performance Of The Ggt/Hdl-C Ratio For Nafld In Adults With Obesity Undergoing Bariatric Surgery, Renzo Pajuelo-Vasquez, Jerry K. Benites-Meza, Hilda V. Durango-Chavez, Gustavo Salinas-Sedo, Carlos J. Toro-Huamanchumo May 2024

Diagnostic Performance Of The Ggt/Hdl-C Ratio For Nafld In Adults With Obesity Undergoing Bariatric Surgery, Renzo Pajuelo-Vasquez, Jerry K. Benites-Meza, Hilda V. Durango-Chavez, Gustavo Salinas-Sedo, Carlos J. Toro-Huamanchumo

Research outputs 2022 to 2026

Background: Non-alcoholic fatty liver disease (NAFLD) has become the most frequent liver disease, closely related with metabolic risk factors such as obesity, insulin resistance, dyslipidemia, diabetes mellitus, and metabolic syndrome. In this context, -Glutamyl transpeptidase (GGT) and high-density lipoprotein cholesterol (HDL-C) have shown correlations with steatosis severity and metabolic syndrome, respectively. This positions the GGT/HDL-C ratio as a potential diagnostic indicator for NAFLD. Objective: To assess the diagnostic performance of the GGT/HDL-C ratio for NAFLD in adults with obesity undergoing bariatric surgery. Methods: We conducted an analytical cross-sectional study, designed as a diagnostic test evaluation. A secondary database of 249 …


Substantial Increases In Healthcare Students’ State Empathy Scores Owing To Participation In A Single Improvisation Session, Brian D. Schwartz, Shane L. Rogers, Nicole Michels, Lon J. Van Winkle May 2024

Substantial Increases In Healthcare Students’ State Empathy Scores Owing To Participation In A Single Improvisation Session, Brian D. Schwartz, Shane L. Rogers, Nicole Michels, Lon J. Van Winkle

Research outputs 2022 to 2026

Purpose: To determine whether the 12-item state empathy scale could be modified reliably to measure empathy in healthcare professions students and to detect changes in their empathy owing to a single improvisation (improv) session. Methods: Three cohorts of students from two healthcare professions programs (total = 165 students) participated in an improv session. During the session, one of the researchers (BS) tasked the students with several improv activities. Participants’ self-reported state empathy scores were assessed at three time points (pre-improv, post-improv, and end of semester) using revised, in-class paper versions of the State Empathy Scale. Results: The exploratory factor analysis …


Substance Misuse In Adults: A Primary Care Approach, Alicia Kowalchuk, Sandra J Gonzalez, Roger J Zoorob May 2024

Substance Misuse In Adults: A Primary Care Approach, Alicia Kowalchuk, Sandra J Gonzalez, Roger J Zoorob

Faculty, Staff and Students Publications

Substance misuse and substance use disorder continue to be major causes of morbidity and mortality, and family physicians are well positioned to provide evidence-based prevention and management for these conditions. Of people 12 years and older, 13% reported using a nonprescribed controlled substance in the past month, and 24% had at least one episode of binge drinking of alcohol, defined as five or more drinks for men and four or more drinks for women on one occasion. Benzodiazepines are used by 12% of the U.S. population. Clinicians should incorporate standardized screening and brief intervention for use of alcohol and other …


Total Aortic Arch Replacement Using A Frozen Elephant Trunk Device: Results Of A 1-Year Us Multicenter Trial, Joseph S Coselli, Eric E Roselli, Ourania Preventza, S Chris Malaisrie, Allan Stewart, Paul Stelzer, Hiroo Takayama, Edward P Chen, Anthony L Estrera, Thomas G Gleason, Michael P Fischbein, Leonard N Girardi, Himanshu J Patel, Joseph E Bavaria, Scott A Lemaire May 2024

Total Aortic Arch Replacement Using A Frozen Elephant Trunk Device: Results Of A 1-Year Us Multicenter Trial, Joseph S Coselli, Eric E Roselli, Ourania Preventza, S Chris Malaisrie, Allan Stewart, Paul Stelzer, Hiroo Takayama, Edward P Chen, Anthony L Estrera, Thomas G Gleason, Michael P Fischbein, Leonard N Girardi, Himanshu J Patel, Joseph E Bavaria, Scott A Lemaire

Faculty, Staff and Students Publications

Objective: In this prospective US investigational device exemption trial, we assessed the safety and 1-year clinical outcomes of the Thoraflex Hybrid device (Terumo Aortic) for the frozen elephant trunk technique to repair the ascending aorta, aortic arch, and descending thoracic aorta.

Methods: For the trial, which involved 12 US sites, 65 patients without rupture were recruited into the primary study group, and 9 patients were recruited into the rupture group. All patients underwent open surgical repair of the ascending aorta, aortic arch, and descending thoracic aorta in cases of aneurysm and/or dissection. The primary end point was freedom from major …


Fatigue Impacts Quality Of Life In People With Spinocerebellar Ataxias, Ruo-Yah Lai, Christian Rummey, Christian J Amlang, Chi-Ying R Lin, Tiffany X Chen, Susan Perlman, George Wilmot, Christopher M Gomez, Jeremy D Schmahmann, Henry Paulson, Sarah H Ying, Chiadi U Onyike, Theresa A Zesiewicz, Khalaf O Bushara, Michael D Geschwind, Karla P Figueroa, Stefan M Pulst, Sub H Subramony, Matthew R Burns, Puneet Opal, Antoine Duquette, Tetsuo Ashizawa, Ali G Hamedani, Marie Y Davis, Sharan R Srinivasan, Lauren R Moore, Vikram G Shakkottai, Liana S Rosenthal, Sheng-Han Kuo May 2024

Fatigue Impacts Quality Of Life In People With Spinocerebellar Ataxias, Ruo-Yah Lai, Christian Rummey, Christian J Amlang, Chi-Ying R Lin, Tiffany X Chen, Susan Perlman, George Wilmot, Christopher M Gomez, Jeremy D Schmahmann, Henry Paulson, Sarah H Ying, Chiadi U Onyike, Theresa A Zesiewicz, Khalaf O Bushara, Michael D Geschwind, Karla P Figueroa, Stefan M Pulst, Sub H Subramony, Matthew R Burns, Puneet Opal, Antoine Duquette, Tetsuo Ashizawa, Ali G Hamedani, Marie Y Davis, Sharan R Srinivasan, Lauren R Moore, Vikram G Shakkottai, Liana S Rosenthal, Sheng-Han Kuo

Faculty, Staff and Students Publications

Background: Fatigue is a prevalent and debilitating symptom in neurological disorders, including spinocerebellar ataxias (SCAs). However, the risk factors of fatigue in the SCAs as well as its impact have not been well investigated.

Objectives: To study the prevalence of fatigue in SCAs, the factors contributing to fatigue, and the influence of fatigue on quality of life.

Methods: Fatigue was assessed in 418 participants with SCA1, SCA2, SCA3, and SCA6 from the Clinical Research Consortium for the Study of Cerebellar Ataxia using the Fatigue Severity Scale. We conducted multi-variable linear regression models to examine the factors contributing to fatigue as …


Are We Asking The Right Questions To People With Achilles Tendinopathy? The Best Questions To Distinguish Mild Versus Severe Disability To Improve Your Clinical Management, Myles C. Murphy, Brady Green, Igor S. Amundarain, Robert J. De Vos, Ebonie K. Rio May 2024

Are We Asking The Right Questions To People With Achilles Tendinopathy? The Best Questions To Distinguish Mild Versus Severe Disability To Improve Your Clinical Management, Myles C. Murphy, Brady Green, Igor S. Amundarain, Robert J. De Vos, Ebonie K. Rio

Research outputs 2022 to 2026

Objective: Determine the capacity of individual items on the Tendinopathy Severity Assessment – Achilles (TENDINS-A), Foot and Ankle Outcome Score (FAOS), and Victorian Institute of Sports Assessment – Achilles (VISA-A) to differentiate patients with mild and severe tendon-related disability in order to provide clinicians the best questions when they are consulting patients with Achilles tendinopathy. Design: Cross-sectional. Participants: Seventy participants with Achilles tendinopathy (61.4% mid-portion only, 31.4% insertional only, 7.2% both). Outcome measures: The discrimination index was determined for each TENDINS-A, FAOS, and VISA-A item to determine if items could discriminate between mild and severe disability. A Guttman analysis for …


Potency Assay To Predict The Anti-Inflammatory Capacity Of A Cell Therapy Product For Macrophage-Driven Diseases: Overcoming The Challenges Of Assay Development And Validation, Samar Sadeghi, Laura Nimtz, Elke Niebergall-Roth, Alexandra Norrick, Stefan Hägele, Lena Vollmer, Jasmina Esterlechner, Markus H. Frank, Christoph Ganss, Karin Scharffetter-Kochanek, Mark A. Kluth May 2024

Potency Assay To Predict The Anti-Inflammatory Capacity Of A Cell Therapy Product For Macrophage-Driven Diseases: Overcoming The Challenges Of Assay Development And Validation, Samar Sadeghi, Laura Nimtz, Elke Niebergall-Roth, Alexandra Norrick, Stefan Hägele, Lena Vollmer, Jasmina Esterlechner, Markus H. Frank, Christoph Ganss, Karin Scharffetter-Kochanek, Mark A. Kluth

Research outputs 2022 to 2026

Background: Given the high level of product complexity and limited regulatory guidance, designing and implementing appropriate potency assays is often the most challenging part of establishing a quality control testing matrix for a cell-based medicinal product. Among the most elusive tasks are the selection of suitable read-out parameters, the development of assay designs that most closely model the pathophysiological conditions, and the validation of the methods. Here we describe these challenges and how they were addressed in developing an assay that measures the anti-inflammatory potency of mesenchymal stromal cells (MSCs) in an M1 macrophage-dominated inflammatory environment. Methods: An in vitro …


The Role Of Pennation Angle And Architectural Gearing To Rate Of Force Development In Dynamic And Isometric Muscle Contractions, Bas Van Hooren, Per Aagaard, Andrea Monte, Anthony J. Blazevich May 2024

The Role Of Pennation Angle And Architectural Gearing To Rate Of Force Development In Dynamic And Isometric Muscle Contractions, Bas Van Hooren, Per Aagaard, Andrea Monte, Anthony J. Blazevich

Research outputs 2022 to 2026

Background: Associations between muscle architecture and rate of force development (RFD) have been largely studied during fixed-end (isometric) contractions. Fixed-end contractions may, however, limit muscle shape changes and thus alter the relationship between muscle architecture an RFD. Aim: We compared the correlation between muscle architecture and architectural gearing and knee extensor RFD when assessed during dynamic versus fixed-end contractions. Methods: Twenty-two recreationally active male runners performed dynamic knee extensions at constant acceleration (2000°s−2) and isometric contractions at a fixed knee joint angle (fixed-end contractions). Torque, RFD, vastus lateralis muscle thickness, and fascicle dynamics were compared during 0–75 and 75–150 ms …


Vitamin K1 Intake Is Associated With Lower Risk For All-Cause And Cardiovascular Disease Mortality In Community-Dwelling Older Australian Women, Montana Dupuy, Simone Radavelli-Bagatini, Liezhou Zhong, Jack Dalla Via, Kun Zhu, Lauren C. Blekkenhorst, Nicola P. Bondonno, Allan Linneberg, Jaime W. Bellinge, Carl Schultz, William Courtney, Richard L. Prince, Jonathan M. Hodgson, Joshua R. Lewis, Marc Sim May 2024

Vitamin K1 Intake Is Associated With Lower Risk For All-Cause And Cardiovascular Disease Mortality In Community-Dwelling Older Australian Women, Montana Dupuy, Simone Radavelli-Bagatini, Liezhou Zhong, Jack Dalla Via, Kun Zhu, Lauren C. Blekkenhorst, Nicola P. Bondonno, Allan Linneberg, Jaime W. Bellinge, Carl Schultz, William Courtney, Richard L. Prince, Jonathan M. Hodgson, Joshua R. Lewis, Marc Sim

Research outputs 2022 to 2026

Background and aims: Assessing the relationship between vitamin K1 intakes, using region-specific food databases, with both all-cause, and cardiovascular disease (CVD) mortality warrants further investigation to inform future preventative strategies. Consequently, we examined the aforementioned associations in the Perth Longitudinal Study of Ageing Women (PLSAW). Methods and results: 1436 community-dwelling older Australian women (mean ± SD age 75.2 ± 2.7 years) completed a validated food frequency questionnaire at baseline (1998). Vitamin K1 intake was calculated based on an Australian vitamin K food database, supplemented with published data. All-cause and CVD mortality data was obtained from linked health records. Associations were …


A Photocrosslinkable And Hemostatic Bilayer Wound Dressing Based On Gelatin Methacrylate Hydrogel And Polyvinyl Alcohol Foam For Skin Regeneration, Asghar Eskandarinia, Mohammad H. Morowvat, Seyyed V. Niknezhad, Moloud Amini Baghbadorani, Martin Michálek, Si Chen, Mohammad M. Nemati, Manica Negahdaripour, Reza Heidari, Amir Azadi, Younes Ghasemi May 2024

A Photocrosslinkable And Hemostatic Bilayer Wound Dressing Based On Gelatin Methacrylate Hydrogel And Polyvinyl Alcohol Foam For Skin Regeneration, Asghar Eskandarinia, Mohammad H. Morowvat, Seyyed V. Niknezhad, Moloud Amini Baghbadorani, Martin Michálek, Si Chen, Mohammad M. Nemati, Manica Negahdaripour, Reza Heidari, Amir Azadi, Younes Ghasemi

Research outputs 2022 to 2026

The enormous potential of multifunctional bilayer wound dressings in various medical interventions for wound healing has led to decades of exploration into this field of medicine. However, it is usually difficult to synthesize a single hydrogel with all the required capabilities simultaneously. This paper proposes a bilayer model with an outer layer intended for hydrogel wound treatment. By adding gelatin methacrylate (GelMA) and tannic acid (TA) to the hydrogel composition and using polyvinyl alcohol-carboxymethyl chitosan (PVA-CMCs) foam layer as supports, a photocrosslinkable hydrogel with an optimal formulation was created. The hydrogels were then examined using a range of analytical procedures, …


Abnormal Cleavage Up To Day 3 Does Not Compromise Live Birth And Neonatal Outcomes Of Embryos That Have Achieved Full Blastulation: A Retrospective Cohort Study, Tammy Lee, Kelli Peirce, Jay Natalwala, Vincent Chapple, Peter J. Mark, Katherine Sanders, Yanhe Liu May 2024

Abnormal Cleavage Up To Day 3 Does Not Compromise Live Birth And Neonatal Outcomes Of Embryos That Have Achieved Full Blastulation: A Retrospective Cohort Study, Tammy Lee, Kelli Peirce, Jay Natalwala, Vincent Chapple, Peter J. Mark, Katherine Sanders, Yanhe Liu

Research outputs 2022 to 2026

STUDY QUESTION: Do embryos displaying abnormal cleavage (ABNCL) up to Day 3 have compromised live birth rates and neonatal outcomes if full blastulation has been achieved prior to transfer? SUMMARY ANSWER: ABNCL is associated with reduced full blastulation rates but does not impact live birth rates and neonatal outcomes once full blastulation has been achieved. WHAT IS KNOWN ALREADY?: It is widely accepted that ABNCL is associated with reduced implantation rates of embryos when transferred at the cleavage stage. However, evidence is scarce in the literature reporting birth outcomes from blastocysts arising from ABNCL embryos, likely because they are ranked …


Association Of Body Iron Stores And Anemia In A Ghanaian Type-2 Diabetes Mellitus Population: A Multicentered Cross-Sectional Study, Wina I.O. Boadu, William K.B.A. Owiredu, Emmanuel Timmy Donkoh, Kwame O. Boadu, Afia A. Kwayie, Joseph Frimpong, Enoch O. Anto, Christian Obirikorang, Emmanuel E. Korsah, Ezekiel Ansah, Michael Nyantakyi, Stephen Opoku, Ebenezer Senu, Elizabeth Aboagye May 2024

Association Of Body Iron Stores And Anemia In A Ghanaian Type-2 Diabetes Mellitus Population: A Multicentered Cross-Sectional Study, Wina I.O. Boadu, William K.B.A. Owiredu, Emmanuel Timmy Donkoh, Kwame O. Boadu, Afia A. Kwayie, Joseph Frimpong, Enoch O. Anto, Christian Obirikorang, Emmanuel E. Korsah, Ezekiel Ansah, Michael Nyantakyi, Stephen Opoku, Ebenezer Senu, Elizabeth Aboagye

Research outputs 2022 to 2026

Background and Aims: Anemia has been a common comorbidity in most chronic diseases, but has not been well monitored in type 2 diabetes mellitus (T2DM) patients. In this study, we investigated the prevalence of anemia and its nexus with iron stores among T2DM patients in health facilities in the Ashanti Region of Ghana. Methods: This multicenter cross-sectional study recruited 213 T2DM out-patients attending the diabetic clinics at the Kumasi South Hospital and St. Michaels Hospital, Jachie Pramso, Ghana, for routine check-ups. Self-reported questionnaires were used to collect sociodemographic, lifestyle, and clinical data from study participants. Blood samples were collected to …


Coordinated Nasal Mucosa-Mediated Immunity Accelerates Recovery From Covid-19, Steven P. Cass, Dan V. Nicolau, Jonathan R. Baker, Christine Mwasuku, Sanjay Ramakrishnan, Mahdi Mahdi, Peter J. Barnes, Louise E. Donnelly, Rocio T. Martinez-Nunez, Richard E.K. Russell, Mona Bafadhel May 2024

Coordinated Nasal Mucosa-Mediated Immunity Accelerates Recovery From Covid-19, Steven P. Cass, Dan V. Nicolau, Jonathan R. Baker, Christine Mwasuku, Sanjay Ramakrishnan, Mahdi Mahdi, Peter J. Barnes, Louise E. Donnelly, Rocio T. Martinez-Nunez, Richard E.K. Russell, Mona Bafadhel

Research outputs 2022 to 2026

Introduction Understanding the interplay of immune mediators in relation to clinical outcomes during acute infection has the potential to highlight immune networks critical to symptom recovery. The objective of the present study was to elucidate the immune networks critical to early symptom resolution following severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infection. Methods In a community-based randomised clinical trial comparing inhaled budesonide against usual care in 139 participants with early onset SARS-CoV-2 (the STOIC study; clinicaltrials.gov identifier NCT04416399), significant clinical deterioration (reported need for urgent care, emergency department visit, hospitalisation: the primary outcome), self-reported symptom severity (Influenza Patient-Reported Outcome questionnaire) …


Diabetic And Hypertensive Disorders Following Early Pregnancy Loss: A Systematic Review And Meta-Analysis, Jennifer Dunne, Damien Foo, Berihun A. Dachew, Bereket Duko, Amanuel T. Gebremedhin, Sylvester D. Nyadanu, Gavin Pereira, Gizachew A. Tessema May 2024

Diabetic And Hypertensive Disorders Following Early Pregnancy Loss: A Systematic Review And Meta-Analysis, Jennifer Dunne, Damien Foo, Berihun A. Dachew, Bereket Duko, Amanuel T. Gebremedhin, Sylvester D. Nyadanu, Gavin Pereira, Gizachew A. Tessema

Research outputs 2022 to 2026

Background: Spontaneous and induced abortions are common outcomes of pregnancy. There is inconsistent evidence of an association between early pregnancy loss and subsequent diabetic and hypertensive disorders in women. This systematic review and meta-analysis evaluated evidence on the risk of the subsequent development of pregnancy and non-pregnancy related diabetic and hypertensive disorders in women who experienced an early pregnancy loss.

Methods: Systematic searches were conducted in seven electronic databases (CINAHL Plus, Ovid/EMBASE, Ovid/MEDLINE, ProQuest, PubMed, Scopus, and Web of Science) from inception to 22nd December 2023. Studies were included if they reported an exposure of spontaneous abortion (SAB), induced abortion …


Intensity-Dependent Effects Of Tdcs On Motor Learning Are Related To Dopamine, Li Ann Leow, Jiaqin Jiang, Samantha Bowers, Yuhan Zhang, Paul E. Dux, Hannah L. Filmer May 2024

Intensity-Dependent Effects Of Tdcs On Motor Learning Are Related To Dopamine, Li Ann Leow, Jiaqin Jiang, Samantha Bowers, Yuhan Zhang, Paul E. Dux, Hannah L. Filmer

Research outputs 2022 to 2026

Non-invasive brain stimulation techniques, such as transcranial direct current stimulation (tDCS), are popular methods for inducing neuroplastic changes to alter cognition and behaviour. One challenge for the field is to optimise stimulation protocols to maximise benefits. For this to happen, we need a better understanding of how stimulation modulates cortical functioning/behaviour. To date, there is increasing evidence for a dose-response relationship between tDCS and brain excitability, however how this relates to behaviour is not well understood. Even less is known about the neurochemical mechanisms which may drive the dose-response relationship between stimulation intensities and behaviour. Here, we examine the effect …


Retinal Dystrophies Associated With Peripherin-2: Genetic Spectrum And Novel Clinical Observations In 241 Patients, Rachael C. Heath Jeffery, Jennifer A. Thompson, Johnny Lo, Enid S. Chelva, Sean Armstrong, Jose S. Pulido, Rebecca Procopio, Andrea L. Vincent, Lorenzo Bianco, Maurizio Battaglia Parodi, Lucia Ziccardi, Giulio Antonelli, Lucilla Barbano, João P. Marques, Sara Geada, Ana L. Carvalho, Wei C. Tang, Choi M. Chan, Camiel J.F. Boon, Jonathan Hensman, Ta Ching Chen, Chien Yu Lin, Pei Lung Chen, Ajoy Vincent, Anupreet Tumber, Elise Heon May 2024

Retinal Dystrophies Associated With Peripherin-2: Genetic Spectrum And Novel Clinical Observations In 241 Patients, Rachael C. Heath Jeffery, Jennifer A. Thompson, Johnny Lo, Enid S. Chelva, Sean Armstrong, Jose S. Pulido, Rebecca Procopio, Andrea L. Vincent, Lorenzo Bianco, Maurizio Battaglia Parodi, Lucia Ziccardi, Giulio Antonelli, Lucilla Barbano, João P. Marques, Sara Geada, Ana L. Carvalho, Wei C. Tang, Choi M. Chan, Camiel J.F. Boon, Jonathan Hensman, Ta Ching Chen, Chien Yu Lin, Pei Lung Chen, Ajoy Vincent, Anupreet Tumber, Elise Heon

Research outputs 2022 to 2026

Purpose:

To describe the clinical, electrophysiological and genetic spectrum of inherited retinal diseases associated with variants in the PRPH2 gene.

Methods.

A total of 241 patients from 168 families across 15 sites in 9 countries with pathogenic or likely pathogenic variants in PRPH2 were included. Records were reviewed for age at symptom onset, visual acuity, full-field ERG, fundus colour photography, fundus autofluorescence (FAF), and SD-OCT. Images were graded into six phenotypes. Statistical analyses were performed to determine genotype–phenotype correlations.

Results:

The median age at symptom onset was 40 years (range, 4–78 years). FAF phenotypes included normal (5%), butterfly pattern dystrophy, …


S-Methyl Cysteine Sulfoxide Does Not Ameliorate Weight Gain Or Hyperlipidemia In Mice Fed A High-Fat Diet, Caroline R. Hill, Armaghan Shafaei, Vance B. Matthews, Natalie C. Ward, Kevin D. Croft, Joshua R. Lewis, Jonathan M. Hodgson, Lois Balmer, Lauren C. Blekkenhorst May 2024

S-Methyl Cysteine Sulfoxide Does Not Ameliorate Weight Gain Or Hyperlipidemia In Mice Fed A High-Fat Diet, Caroline R. Hill, Armaghan Shafaei, Vance B. Matthews, Natalie C. Ward, Kevin D. Croft, Joshua R. Lewis, Jonathan M. Hodgson, Lois Balmer, Lauren C. Blekkenhorst

Research outputs 2022 to 2026

Scope: Higher intake of cruciferous and allium vegetables is associated with lower cardiometabolic risk. Little research has investigated the cardiometabolic effects of S-methyl cysteine sulfoxide (SMCSO), found abundant in these vegetables. This study hypothesizes that SMCSO will blunt development of metabolic syndrome features in mice fed high-fat feed. Methods and results: Fifty C57BL/6 male mice are randomly assigned to standard-chow, high-fat, or high-fat supplemented with low-SMCSO (43 mg kg−1 body weight [BW] day−1), medium-SMCSO (153 mg kg−1 BW day−1), or high-SMCSO (256 mg kg−1 BW day−1) for 12-weeks. High-fat with SMCSO did not prevent diet-induced obesity, glucose intolerance, or hypercholesterolemia. …


Physical Activity And Depression: Nationwide Evaluation Of Depression And Physical Activity In South Korea, Kwang Jun Kim, Jin Soo Kim, Dong Hyun Yoon May 2024

Physical Activity And Depression: Nationwide Evaluation Of Depression And Physical Activity In South Korea, Kwang Jun Kim, Jin Soo Kim, Dong Hyun Yoon

Research outputs 2022 to 2026

Purpose: The relationship between depression and physical activity levels in adults in Korea was determined using data from the National Health and Nutrition Survey (K-NAESE). METHODS: Data collected from K-NAESE between 2014 and 2020, comprising 29,716 (male: 13,416, female: 16,300) participants, were analyzed using a complex sample statistical analysis by applying differential weight to the variables to analyze the relationship between depression and physical activity levels in an estimated South Korean population (50,881,242). Demographic factors were used as control variables while constructing an independent variable-by-variable fit model for the zero-inflated Poison Regression analysis of PHQ-9 depression scores, and a meaningfully …


Altered Myocardial Lipid Regulation In Junctophilin-2-Associated Familial Cardiomyopathies, Satadru K Lahiri, Feng Jin, Yue Zhou, Ann P Quick, Carlos F Kramm, Meng C Wang, Xander Ht Wehrens May 2024

Altered Myocardial Lipid Regulation In Junctophilin-2-Associated Familial Cardiomyopathies, Satadru K Lahiri, Feng Jin, Yue Zhou, Ann P Quick, Carlos F Kramm, Meng C Wang, Xander Ht Wehrens

Faculty, Staff and Students Publications

Myocardial lipid metabolism is critical to normal heart function, whereas altered lipid regulation has been linked to cardiac diseases including cardiomyopathies. Genetic variants in the JPH2 gene can cause hypertrophic cardiomyopathy (HCM) and, in some cases, dilated cardiomyopathy (DCM). In this study, we tested the hypothesis that JPH2 variants identified in patients with HCM and DCM, respectively, cause distinct alterations in myocardial lipid profiles. Echocardiography revealed clinically significant cardiac dysfunction in both knock-in mouse models of cardiomyopathy. Unbiased myocardial lipidomic analysis demonstrated significantly reduced levels of total unsaturated fatty acids, ceramides, and various phospholipids in both mice with HCM and …


Predictors And Impact Of Prolonged Vasoplegia After Continuous-Flow Left Ventricular Assist Device Implantation, Harveen K Lamba, Mary Kim, Meng Li, Andrew B Civitello, Ajith P Nair, Leo Simpson, J Patrick Herlihy, O H Frazier, Joseph G Rogers, Gabriel Loor, Kenneth K Liao, Alexis E Shafii, Subhasis Chatterjee May 2024

Predictors And Impact Of Prolonged Vasoplegia After Continuous-Flow Left Ventricular Assist Device Implantation, Harveen K Lamba, Mary Kim, Meng Li, Andrew B Civitello, Ajith P Nair, Leo Simpson, J Patrick Herlihy, O H Frazier, Joseph G Rogers, Gabriel Loor, Kenneth K Liao, Alexis E Shafii, Subhasis Chatterjee

Faculty, Staff and Students Publications

BACKGROUND: Vasoplegia after cardiac surgery is associated with adverse outcomes. However, the clinical effects of vasoplegia and the significance of its duration after continuous-flow left ventricular assist device (CF-LVAD) implantation are less known.

OBJECTIVES: This study aimed to identify predictors of and outcomes from transient vs prolonged vasoplegia after CF-LVAD implantation.

METHODS: The study was a retrospective review of consecutive patients who underwent CF-LVAD implantation between January 1, 2005, and December 31, 2017. Vasoplegia was defined as the presence of all of the following: mean arterial pressure ≤65 mm Hg, vasopressor (epinephrine, norepinephrine, vasopressin, or dopamine) use for >6 hours …


Clinical Outcomes After Acute Coronary Syndromes Or Revascularization Among People Living With Hiv: A Systematic Review And Meta-Analysis, Mohammed Haji, Michael Capilupi, Michael Kwok, Nouran Ibrahim, Gerald S Bloomfield, Christopher T Longenecker, Maria C Rodriguez-Barradas, Chester N Ashong, Eric Jutkowitz, Tracey H Taveira, Michelle Richard, Jennifer L Sullivan, James L Rudolph, Wen-Chih Wu, Sebhat Erqou May 2024

Clinical Outcomes After Acute Coronary Syndromes Or Revascularization Among People Living With Hiv: A Systematic Review And Meta-Analysis, Mohammed Haji, Michael Capilupi, Michael Kwok, Nouran Ibrahim, Gerald S Bloomfield, Christopher T Longenecker, Maria C Rodriguez-Barradas, Chester N Ashong, Eric Jutkowitz, Tracey H Taveira, Michelle Richard, Jennifer L Sullivan, James L Rudolph, Wen-Chih Wu, Sebhat Erqou

Faculty, Staff and Students Publications

IMPORTANCE: Clinical outcomes after acute coronary syndromes (ACS) or percutaneous coronary interventions (PCIs) in people living with HIV have not been characterized in sufficient detail, and extant data have not been synthesized adequately.

OBJECTIVE: To better characterize clinical outcomes and postdischarge treatment of patients living with HIV after ACS or PCIs compared with patients in an HIV-negative control group.

DATA SOURCES: Ovid MEDLINE, Embase, and Web of Science were searched for all available longitudinal studies of patients living with HIV after ACS or PCIs from inception until August 2023.

STUDY SELECTION: Included studies met the following criteria: patients living with …


Tenapanor As Therapy For Hyperphosphatemia In Maintenance Dialysis Patients: Results From The Optimize Study, Stuart M Sprague, Daniel E Weiner, David P Tietjen, Pablo E Pergola, Steven Fishbane, Geoffrey A Block, Arnold L Silva, Stephen Z Fadem, Robert I Lynn, George Fadda, Lynae Pagliaro, Suling Zhao, Susan Edelstein, David M Spiegel, David P Rosenbaum May 2024

Tenapanor As Therapy For Hyperphosphatemia In Maintenance Dialysis Patients: Results From The Optimize Study, Stuart M Sprague, Daniel E Weiner, David P Tietjen, Pablo E Pergola, Steven Fishbane, Geoffrey A Block, Arnold L Silva, Stephen Z Fadem, Robert I Lynn, George Fadda, Lynae Pagliaro, Suling Zhao, Susan Edelstein, David M Spiegel, David P Rosenbaum

Faculty, Staff and Students Publications

KEY POINTS: Tenapanor, a first-in-class local inhibitor of sodium/hydrogen exchanger isoform 3, acts as a phosphate absorption inhibitor by decreasing paracellular phosphate absorption. Tenapanor alone or with phosphate binders achieved

BACKGROUND: OPTIMIZE was a randomized, open-label study evaluating different tenapanor initiation methods. OPTIMIZE evaluated tenapanor alone and in combination with phosphate binders (PBs) to achieve target serum phosphate (P) ≤5.5 mg/dl.

METHODS: Patients with inadequately controlled P receiving maintenance dialysis from 42 US locations who were taking PBs with baseline

RESULTS: By part A end point, 34.4% (

CONCLUSIONS: Tenapanor as monotherapy or in combination with PBs effectively lowered P …


Use Of Topical Methylene Blue To Image Nuclear Morphometry With A Low-Cost Scanning Darkfield Microendoscope, Huayu Hou, Jennifer Carns, Richard A Schwarz, Ann M Gillenwater, Sharmila Anandasabapathy, Rebecca R Richards-Kortum May 2024

Use Of Topical Methylene Blue To Image Nuclear Morphometry With A Low-Cost Scanning Darkfield Microendoscope, Huayu Hou, Jennifer Carns, Richard A Schwarz, Ann M Gillenwater, Sharmila Anandasabapathy, Rebecca R Richards-Kortum

Faculty, Staff and Students Publications

SIGNIFICANCE: Fiber-optic microendoscopy is a promising approach to noninvasively visualize epithelial nuclear morphometry for early cancer and precancer detection. However, the broader clinical application of this approach is limited by a lack of topical contrast agents available for

AIM: The aim of this study was to evaluate the ability to image nuclear morphometry in vivo with a novel fiber-optic microendoscope used together with topical application of methylene blue (MB), a dye with FDA approval for use in chromoendoscopy in the gastrointestinal tract.

APPROACH: The low-cost, high-resolution microendoscope implements scanning darkfield imaging without complex optomechanical components by leveraging programmable illumination and …


The Employment Of Resuscitative Endovascular Balloon Occlusion Of The Aorta In Deployed Settings, Branson D. Taheri, Andrew D. Fisher, Ian F. Eisenhauer, Michael D. April, Julie A. Rizzo, Sundeep S. Guliani, Kathleen M. Flarity, Michael Cripps, Vikhyat S. Bebarta, Max V. Wohlauer, Steven G. Schauer May 2024

The Employment Of Resuscitative Endovascular Balloon Occlusion Of The Aorta In Deployed Settings, Branson D. Taheri, Andrew D. Fisher, Ian F. Eisenhauer, Michael D. April, Julie A. Rizzo, Sundeep S. Guliani, Kathleen M. Flarity, Michael Cripps, Vikhyat S. Bebarta, Max V. Wohlauer, Steven G. Schauer

Faculty Publications

Excerpt: We identified 17 cases of REBOA placed in combat settings from 2017 to 2019. The majority of these were placed in the operating room (76%) and in civilian patients (70%).


Consensus Guidelines For The Diagnosis And Management Of Succinic Semialdehyde Dehydrogenase Deficiency, Itay Tokatly Latzer, Mariarita Bertoldi, Nenad Blau, Melissa L Dibacco, Sarah H Elsea, Àngels García-Cazorla, K Michael Gibson, Andrea L Gropman, Ellen Hanson, Carolyn Hoffman, Kathrin Jeltsch, Natalia Juliá-Palacios, Ina Knerr, Henry H C Lee, Patrizia Malaspina, Alice Mcconnell, Thomas Opladen, Mari Oppebøen, Alexander Rotenberg, Mark Walterfang, Lee Wang-Tso, Ron A Wevers, Jean-Baptiste Roullet, Phillip L Pearl May 2024

Consensus Guidelines For The Diagnosis And Management Of Succinic Semialdehyde Dehydrogenase Deficiency, Itay Tokatly Latzer, Mariarita Bertoldi, Nenad Blau, Melissa L Dibacco, Sarah H Elsea, Àngels García-Cazorla, K Michael Gibson, Andrea L Gropman, Ellen Hanson, Carolyn Hoffman, Kathrin Jeltsch, Natalia Juliá-Palacios, Ina Knerr, Henry H C Lee, Patrizia Malaspina, Alice Mcconnell, Thomas Opladen, Mari Oppebøen, Alexander Rotenberg, Mark Walterfang, Lee Wang-Tso, Ron A Wevers, Jean-Baptiste Roullet, Phillip L Pearl

Faculty, Staff and Students Publications

Succinic semialdehyde dehydrogenase deficiency (SSADHD) (OMIM #271980) is a rare autosomal recessive metabolic disorder caused by pathogenic variants of ALDH5A1. Deficiency of SSADH results in accumulation of γ-aminobutyric acid (GABA) and other GABA-related metabolites. The clinical phenotype of SSADHD includes a broad spectrum of non-pathognomonic symptoms such as cognitive disabilities, communication and language deficits, movement disorders, epilepsy, sleep disturbances, attention problems, anxiety, and obsessive-compulsive traits. Current treatment options for SSADHD remain supportive, but there are ongoing attempts to develop targeted genetic therapies. This study aimed to create consensus guidelines for the diagnosis and management of SSADHD. Thirty relevant statements were …


Rna Sequencing For Solid Tumor Fusion Gene Detection: Proficiency Testing Practice And Performance Comparison, Julia A Bridge, Kevin C Halling, Joel T Moncur, Rhona J Souers, Meera R Hameed, Helen Fernandes, Angshumoy Roy, Lea Surrey, Laura J Tafe, Patricia Vasalos, Dolores H Lopez-Terrada May 2024

Rna Sequencing For Solid Tumor Fusion Gene Detection: Proficiency Testing Practice And Performance Comparison, Julia A Bridge, Kevin C Halling, Joel T Moncur, Rhona J Souers, Meera R Hameed, Helen Fernandes, Angshumoy Roy, Lea Surrey, Laura J Tafe, Patricia Vasalos, Dolores H Lopez-Terrada

Faculty, Staff and Students Publications

Context: Next-generation sequencing-based approaches using RNA have increasingly been used by clinical laboratories for the detection of fusion genes, intragenic rearrangements, and exon-skipping events. Correspondingly, the College of American Pathologists (CAP) has advanced RNA sequencing proficiency testing (PT) to ensure optimal performance of these assays.

Objective: To report on laboratory performance and practices of RNA sequencing for the detection of fusion genes, intragenic rearrangements, and exon-skipping events using CAP PT data from 8 mailings (2018-A through 2021-B).

Design: CAP PT RNA sequencing program results from 153 laboratories across 24 proficiency test specimens, interrogating 22 distinct engineered fusion transcripts, were analyzed …


Association Of Minor Electrocardiographic (Ecg) Abnormalities With Epilepsy Duration In Children: A Manifestation Of The Epileptic Heart?, Brittnie Bartlett-Lee, Leslie Dervan, Christina Miyake, R Scott Watson, See Wai Chan, Anne E Anderson, Yi-Chen Lai May 2024

Association Of Minor Electrocardiographic (Ecg) Abnormalities With Epilepsy Duration In Children: A Manifestation Of The Epileptic Heart?, Brittnie Bartlett-Lee, Leslie Dervan, Christina Miyake, R Scott Watson, See Wai Chan, Anne E Anderson, Yi-Chen Lai

Faculty, Staff and Students Publications

Purpose: Cardiac abnormalities resulting from chronic epilepsy ("the epileptic heart") constitute a well-recognized comorbidity. However, the association of cardiac alterations with epilepsy duration remains understudied. We sought to evaluate this association using electrocardiogram (ECG).

Methods: We prospectively enrolled children between 1 months and 18 years of age without known cardiac conditions or ion channelopathies during routine clinic visits. ECGs were categorized as abnormal if there were alterations in rhythm; PR, QRS, or corrected QT interval; QRS axis or morphology; ST segment or T wave. An independent association between ECG abnormalities and epilepsy duration was evaluated using multivariable logistic regression modeling. …


Exposure To 4,4′-Dde In Visceral Adipose Tissue And Weight Loss In Adolescents From The Teen-Labs Cohort, Bruna Rubbo, Zhenjiang Li, Phum Tachachartvanich, Brittney O Baumert, Hongxu Wang, Shudi Pan, Sarah Rock, Justin R Ryder, Todd Jenkins, Stephanie Sisley, Xiangping Lin, Scott Bartell, Thomas H Inge, Stavra Xanthakos, Brooklynn Mcneil, Anna R Robuck, Michele A La Merrill, Douglas I Walker, David V Conti, Rob Mcconnell, Sandrah P Eckel, Lida Chatzi May 2024

Exposure To 4,4′-Dde In Visceral Adipose Tissue And Weight Loss In Adolescents From The Teen-Labs Cohort, Bruna Rubbo, Zhenjiang Li, Phum Tachachartvanich, Brittney O Baumert, Hongxu Wang, Shudi Pan, Sarah Rock, Justin R Ryder, Todd Jenkins, Stephanie Sisley, Xiangping Lin, Scott Bartell, Thomas H Inge, Stavra Xanthakos, Brooklynn Mcneil, Anna R Robuck, Michele A La Merrill, Douglas I Walker, David V Conti, Rob Mcconnell, Sandrah P Eckel, Lida Chatzi

Faculty, Staff and Students Publications

Objective: Dichlorodiphenyldichloroethylene (DDE), an obesogen accumulating in adipose tissue, is released into circulation with weight loss, although its impact is underexplored among adolescents. We tested the association using an integrative translational approach of epidemiological analysis among adolescents with obesity and in vitro measures exploring the impact of DDE on adipogenesis via preadipocytes.

Methods: We included 63 participants from the Teen-Longitudinal Assessment of Bariatric Surgery (Teen-LABS) cohort. We assessed 4,4'-DDE in visceral adipose tissue at surgery and BMI and waist circumference at surgery and 0.5, 1, 3, and 5 years after. We conducted longitudinal analysis to estimate the interaction on weight …