keyword
https://read.qxmd.com/read/38493765/rationale-and-design-of-the-statins-use-in-intracerebral-hemorrhage-patients-saturn-trial
#1
JOURNAL ARTICLE
Sarah Marchina, Sharon D Yeatts, Lydia D Foster, Scott Janis, Ashkan Shoamanesh, Pooja Khatri, Kimberlee Bernstein, Aaron Perlmutter, Catherine Stever, Elizabeth C Heistand, Joseph P Broderick, Steven M Greenberg, Enrique C Leira, Jonathan Rosand, Vasileios-Arsenios Lioutas, Rustam Al Shahi Salman, David Tirschwell, Joan Marti-Fabregas, Magdy Selim
INTRODUCTION: The benefits and risks of HMG-CoA reductase inhibitor (statin) drugs in survivors of intracerebral hemorrhage (ICH) are unclear. Observational studies suggest an association between statin use and increased risk of lobar ICH, particularly in patients with apolipoprotein-E (APOE) ε2 and ε4 genotypes. There are no randomized controlled trials (RCTs) addressing the effects of statins after ICH leading to uncertainty as to whether statins should be used in patients with lobar ICH who are at high risk for ICH recurrence...
March 16, 2024: Cerebrovascular Diseases
https://read.qxmd.com/read/38336172/multiple-genes-core-to-erad-macro-autophagy-and-lysosomal-degradation-pathways-participate-in-the-proteostasis-response-in-%C3%AE-1-antitrypsin-deficiency
#2
JOURNAL ARTICLE
Jie Li, Francesca Moretti, Tunda Hidvegi, Sanja Sviben, James Aj Fitzpatrick, Hemalatha Sundaramoorthi, Stephen C Pak, Gary A Silverman, Britta Knapp, Ireos Filipuzzi, John Alford, John Reece-Hoyes, Florian Nigsch, Leon O Murphy, Beat Nyfeler, David H Perlmutter
BACKGROUND: In the classical form of α1-antitrypsin deficiency (ATD), the misfolded α1-antitrypsin Z (ATZ) variant accumulates in the endoplasmic reticulum (ER) of liver cells. A gain-of-function proteotoxic mechanism is responsible for chronic liver disease in a sub-group of homozygotes. Proteostatic response pathways, including conventional ERAD and autophagy, have been proposed as the mechanisms that allow cellular adaptation and presumably protection from the liver disease phenotype...
February 7, 2024: Cellular and Molecular Gastroenterology and Hepatology
https://read.qxmd.com/read/38151831/impact-of-autotransfusion-on-recurrence-of-colorectal-cancer-liver-metastasis-long-term-follow-up-of-patients-undergoing-curative-intent-hepatectomy
#3
JOURNAL ARTICLE
Chase J Wehrle, Breanna Perlmutter, Hanna Hong, Jenny Chang, Kathryn A Stackhouse, Rob Naples, M Shanaz Hossain, Daniel Joyce, Robert Simon, Jaekeun Kim, Samer A Naffouje, Federico Aucejo, David C H Kwon, R Matthew Walsh, Toms Augustin
INTRODUCTION: Colorectal cancer liver metastasis (CRLM) occurs in upto 50% of cases and drives patient outcomes. Up-front liver resection is the treatment of choice in resectable cases. There is no consensus yet established as to the safety of intraoperative autotransfusion in liver resection for CRLM. METHODS: Patients undergoing curative-intent hepatectomy for CRLM at a single quaternary-care institution from 1999 to 2016 were included. Demographics, surgical variables, Fong Clinical Risk Score (FCRS), use of intraoperative auto and/or allotransfusion, and survival data were analyzed...
March 2024: Journal of Surgical Oncology
https://read.qxmd.com/read/38109213/neoadjuvant-trebananib-plus-paclitaxel-based-chemotherapy-for-stage-ii-iii-breast-cancer-in-the-adaptively-randomized-i-spy2-trial-efficacy-and-biomarker-discovery
#4
RANDOMIZED CONTROLLED TRIAL
Kathy S Albain, Christina Yau, Emanuel F Petricoin, Denise M Wolf, Julie E Lang, A Jo Chien, Tufia Haddad, Andres Forero-Torres, Anne M Wallace, Henry Kaplan, Lajos Pusztai, David Euhus, Rita Nanda, Anthony D Elias, Amy S Clark, Constantine Godellas, Judy C Boughey, Claudine Isaacs, Debu Tripathy, Janice Lu, Rachel L Yung, Rosa I Gallagher, Julia D Wulfkuhle, Lamorna Brown-Swigart, Gregor Krings, Yunn Yi Chen, David A Potter, Erica Stringer-Reasor, Sarah Blair, Smita M Asare, Amy Wilson, Gillian L Hirst, Ruby Singhrao, Meredith Buxton, Julia L Clennell, Ashish Sanil, Scott Berry, Adam L Asare, Jeffrey B Matthews, Angela M DeMichele, Nola M Hylton, Michelle Melisko, Jane Perlmutter, Hope S Rugo, W Fraser Symmans, Laura J Van't Veer, Douglas Yee, Donald A Berry, Laura J Esserman
PURPOSE: The neutralizing peptibody trebananib prevents angiopoietin-1 and angiopoietin-2 from binding with Tie2 receptors, inhibiting angiogenesis and proliferation. Trebananib was combined with paclitaxel±trastuzumab in the I-SPY2 breast cancer trial. PATIENTS AND METHODS: I-SPY2, a phase II neoadjuvant trial, adaptively randomizes patients with high-risk, early-stage breast cancer to one of several experimental therapies or control based on receptor subtypes as defined by hormone receptor (HR) and HER2 status and MammaPrint risk (MP1, MP2)...
February 16, 2024: Clinical Cancer Research
https://read.qxmd.com/read/38066314/longitudinal-modeling-of-human-neuronal-aging-reveals-the-contribution-of-the-rcan1-tfeb-pathway-to-huntington-s-disease-neurodegeneration
#5
JOURNAL ARTICLE
Seong Won Lee, Young Mi Oh, Matheus B Victor, Yan Yang, Shawei Chen, Ilya Strunilin, Sonika Dahiya, Roland E Dolle, Stephen C Pak, Gary A Silverman, David H Perlmutter, Andrew S Yoo
Aging is a common risk factor in neurodegenerative disorders. Investigating neuronal aging in an isogenic background stands to facilitate analysis of the interplay between neuronal aging and neurodegeneration. Here we perform direct neuronal reprogramming of longitudinally collected human fibroblasts to reveal genetic pathways altered at different ages. Comparative transcriptome analysis of longitudinally aged striatal medium spiny neurons (MSNs) in Huntington's disease identified pathways involving RCAN1, a negative regulator of calcineurin...
December 8, 2023: Nature aging
https://read.qxmd.com/read/37824710/prevalence-of-acinetobacter-baumannii-and-candida-auris-in-patients-receiving-mechanical-ventilation
#6
JOURNAL ARTICLE
Anthony D Harris, Lisa Pineles, J Kristie Johnson, Lyndsay M O'Hara, L Leigh Smith, Indira French, Jamie Rubin, Rebecca Perlmutter, Ashley Heller, Liore Klein, John Thoguru, David Blythe, Elisabeth Vaeth
IMPORTANCE: To date, only 1 statewide prevalence survey has been performed for Acinetobacter baumannii (2009) in the US, and no statewide prevalence survey has been performed for Candida auris, making the current burden of these emerging pathogens unknown. OBJECTIVE: To determine the prevalence of A baumannii and C auris among patients receiving mechanical ventilation in Maryland. DESIGN, SETTING, AND PARTICIPANTS: The Maryland Multi-Drug Resistant Organism Prevention Collaborative performed a statewide cross-sectional point prevalence of patients receiving mechanical ventilation admitted to acute care hospitals (n = 33) and long-term care facilities (n = 18) between March 7, 2023, and June 8, 2023...
October 12, 2023: JAMA
https://read.qxmd.com/read/37466750/interrater-reliability-of-motor-severity-scales-for-hemifacial-spasm
#7
JOURNAL ARTICLE
Ha Yeon Lee, Ingyun Park, Minnie P Luu, Jerry Zhao, Jeanne P Vu, Elizabeth Cisneros, Brian D Berman, H A Jinnah, Han-Joon Kim, Catherine Y Liu, Joel S Perlmutter, Sarah Pirio Richardson, Anne Weissbach, Glenn T Stebbins, David A Peterson
To compare the inter-rater reliability (IRR) of five clinical rating scales for video-based assessment of hemifacial spasm (HFS) motor severity. We evaluated the video recordings of 45 HFS participants recruited through the Dystonia Coalition. In Round 1, six clinicians with expertise in HFS assessed the participants' motor severity with five scales used to measure motor severity of HFS: the Jankovic rating scale (JRS), Hemifacial Spasm Grading Scale (HSGS), Samsung Medical Center (SMC) grading system for severity of HFS spasms (Lee's scale), clinical grading of spasm intensity (Chen's scale), and a modified version of the Abnormal Involuntary Movement Scale (Tunc's scale)...
July 19, 2023: Journal of Neural Transmission
https://read.qxmd.com/read/37425699/expansion-assisted-selective-plane-illumination-microscopy-for-nanoscale-imaging-of-centimeter-scale-tissues
#8
Adam Glaser, Jayaram Chandrashekar, Joshua Vasquez, Cameron Arshadi, Naveen Ouellette, Xiaoyun Jiang, Judith Baka, Gabor Kovacs, Micah Woodard, Sharmishtaa Seshamani, Kevin Cao, Nathan Clack, Andrew Recknagel, Anna Grim, Pooja Balaram, Emily Turschak, Alan Liddell, John Rohde, Ayana Hellevik, Kevin Takasaki, Lindsey Erion Barner, Molly Logsdon, Chris Chronopoulos, Saskia de Vries, Jonathan Ting, Steve Perlmutter, Brian Kalmbach, Nikolai Dembrow, R Clay Reid, David Feng, Karel Svoboda
Recent advances in tissue processing, labeling, and fluorescence microscopy are providing unprecedented views of the structure of cells and tissues at sub-diffraction resolutions and near single molecule sensitivity, driving discoveries in diverse fields of biology, including neuroscience. Biological tissue is organized over scales of nanometers to centimeters. Harnessing molecular imaging across three-dimensional samples on this scale requires new types of microscopes with larger fields of view and working distance, as well as higher imaging throughput...
June 27, 2023: bioRxiv
https://read.qxmd.com/read/37326157/distributed-memory-gpu-accelerated-fock-construction-for-hybrid-gaussian-basis-density-functional-theory
#9
JOURNAL ARTICLE
David B Williams-Young, Andrey Asadchev, Doru Thom Popovici, David Clark, Jonathan Waldrop, Theresa L Windus, Edward F Valeev, Wibe A de Jong
With the growing reliance of modern supercomputers on accelerator-based architecture such a graphics processing units (GPUs), the development and optimization of electronic structure methods to exploit these massively parallel resources has become a recent priority. While significant strides have been made in the development GPU accelerated, distributed memory algorithms for many modern electronic structure methods, the primary focus of GPU development for Gaussian basis atomic orbital methods has been for shared memory systems with only a handful of examples pursing massive parallelism...
June 21, 2023: Journal of Chemical Physics
https://read.qxmd.com/read/37214956/longitudinal-modeling-of-human-neuronal-aging-identifies-rcan1-tfeb-pathway-contributing-to-neurodegeneration-of-huntington-s-disease
#10
Andrew Yoo, Seong Won Lee, Young Mi Oh, Matheus Victor, Ilya Strunilin, Shawei Chen, Sonika Dahiya, Roland Dolle, Stephen Pak, Gary Silverman, David Perlmutter
Aging is a common risk factor in neurodegenerative disorders and the ability to investigate aging of neurons in an isogenic background would facilitate discovering the interplay between neuronal aging and onset of neurodegeneration. Here, we perform direct neuronal reprogramming of longitudinally collected human fibroblasts to reveal genetic pathways altered at different ages. Comparative transcriptome analysis of longitudinally aged striatal medium spiny neurons (MSNs), a primary neuronal subtype affected in Huntington's disease (HD), identified pathways associated with RCAN1, a negative regulator of calcineurin...
May 9, 2023: Research Square
https://read.qxmd.com/read/36972652/-another-tool-in-the-toolkit-perceptions-suggestions-and-concerns-of-emergency-service-providers-about-the-implementation-of-a-supervised-consumption-site
#11
JOURNAL ARTICLE
David Perlmutter, Courteney Wettemann, Callan Elswick Fockele, Tessa Frohe, Will Williams, Nathan Holland, Thea Oliphant-Wells, Hendrika Meischke, Jenna van Draanen
BACKGROUND: As Supervised Consumption Sites (SCS) are implemented in the United States, it is important to consider the needs and perceptions of impacted stakeholders. Emergency service providers (ESP) have a central role in responding to the overdose epidemic. This study intended to assess the how ESP perceive the potential implementation of an SCS in their community, as well as solicit program design and implementation-related concerns and suggestions. METHODS: In-depth interviews were conducted by videoconference with 22 ESP, including firefighters, paramedics, police, and social workers in King County, Washington, USA...
March 25, 2023: International Journal on Drug Policy
https://read.qxmd.com/read/36969738/advance-care-planning-and-health-related-quality-of-life-in-huntington-disease-results-from-a-multicenter-national-study
#12
JOURNAL ARTICLE
Leonard L Sokol, Jonathan P Troost, Danny Bega, Benzi M Kluger, Holly G Prigerson, Martha Nance, Samuel Frank, Joel S Perlmutter, Praveen Dayalu, David Cella, Noelle E Carlozzi
OBJECTIVE: With Huntington disease (HD), a fatal neurodegenerative disease where the prevalence of suicidal thoughts and behavior (STB) remains elevated as compared to other neurological disorders, it is unknown whether STB and health-related quality of life (HRQoL) affect plans for the end of life or more broadly, advance care planning (ACP). Conversely, it is unknown whether ACP would provoke future changes to STB and HRQoL. Therefore, we sought to evaluate whether STB and HRQoL patient-reported outcomes (PROs) contribute to ACP and whether ACP relates to changes in STB and HRQoL at 24 months...
2023: Palliative medicine reports
https://read.qxmd.com/read/36848094/resolution-of-hepatic-fibrosis-after-zfn-mediated-gene-editing-in-the-piz-mouse-model-of-human-%C3%AE-1-antitrypsin-deficiency
#13
JOURNAL ARTICLE
Yanfeng Li, Chandan Guha, Patrik Asp, Xia Wang, Tatyana L Tchaikovskya, Kenneth Kim, Matthew Mendel, Gregory J Cost, David H Perlmutter, Namita Roy-Chowdhury, Ira J Fox, Anthony Conway, Jayanta Roy-Chowdhury
BACKGROUND: α1-antitrypsin deficiency is most commonly caused by a mutation in exon-7 of SERPINA1 (SA1-ATZ), resulting in hepatocellular accumulation of a misfolded variant (ATZ). Human SA1-ATZ-transgenic (PiZ) mice exhibit hepatocellular ATZ accumulation and liver fibrosis. We hypothesized that disrupting the SA1-ATZ transgene in PiZ mice by in vivo genome editing would confer a proliferative advantage to the genome-edited hepatocytes, enabling them to repopulate the liver. METHODS: To create a targeted DNA break in exon-7 of the SA1-ATZ transgene, we generated 2 recombinant adeno-associated viruses (rAAV) expressing a zinc-finger nuclease pair (rAAV-ZFN), and another rAAV for gene correction by targeted insertion (rAAV-TI)...
March 1, 2023: Hepatology Communications
https://read.qxmd.com/read/36774227/could-alzheimer-s-disease-be-a-maladaptation-of-an-evolutionary-survival-pathway-mediated-by-intracerebral-fructose-and-uric-acid-metabolism
#14
REVIEW
Richard J Johnson, Dean R Tolan, Dale Bredesen, Maria Nagel, Laura G Sánchez-Lozada, Mehdi Fini, Scott Burtis, Miguel A Lanaspa, David Perlmutter
An important aspect of survival is to assure enough food, water, and oxygen. Here, we describe a recently discovered response that favors survival in times of scarcity, and it is initiated by either ingestion or production of fructose. Unlike glucose, which is a source for immediate energy needs, fructose metabolism results in an orchestrated response to encourage food and water intake, reduce resting metabolism, stimulate fat and glycogen accumulation, and induce insulin resistance as a means to reduce metabolism and preserve glucose supply for the brain...
March 2023: American Journal of Clinical Nutrition
https://read.qxmd.com/read/36607769/death-anxiety-in-huntington-disease-longitudinal-heath-related-quality-of-life-outcomes
#15
JOURNAL ARTICLE
Leonard L Sokol, Jonathan P Troost, Danny Bega, Jane S Paulsen, Benzi M Kluger, Allison J Applebaum, Samuel Frank, Martha A Nance, Karen E Anderson, Joel S Perlmutter, Colin A Depp, Jordan Grafman, David Cella, Noelle E Carlozzi
Objective: Death anxiety, represented by the HDQLIFE™ Concern with Death and Dying (CwDD) patient-reported outcome (PRO) questionnaire, captures a person's worry about the death and dying process. Previous work suggests that death anxiety remains an unremitting burden throughout all stages of Huntington disease (HD). Although palliative interventions have lessened death anxiety among people with advanced cancer, none has yet to undergo testing in the HD population. An account of how death anxiety is associated with longitudinal changes to aspects of health-related quality of life (HRQoL) would help optimize neuropalliative interventions for people with HD...
January 6, 2023: Journal of Palliative Medicine
https://read.qxmd.com/read/36337994/investing-in-the-advancement-of-science
#16
JOURNAL ARTICLE
David H Perlmutter
No abstract text is available yet for this article.
September 2022: Missouri Medicine
https://read.qxmd.com/read/36303071/age-related-huntington-s-disease-progression-modeled-in-directly-reprogrammed-patient-derived-striatal-neurons-highlights-impaired-autophagy
#17
JOURNAL ARTICLE
Young Mi Oh, Seong Won Lee, Woo Kyung Kim, Shawei Chen, Victoria A Church, Kitra Cates, Tiandao Li, Bo Zhang, Roland E Dolle, Sonika Dahiya, Stephen C Pak, Gary A Silverman, David H Perlmutter, Andrew S Yoo
Huntington's disease (HD) is an inherited neurodegenerative disorder with adult-onset clinical symptoms, but the mechanism by which aging drives the onset of neurodegeneration in patients with HD remains unclear. In this study we examined striatal medium spiny neurons (MSNs) directly reprogrammed from fibroblasts of patients with HD to model the age-dependent onset of pathology. We found that pronounced neuronal death occurred selectively in reprogrammed MSNs from symptomatic patients with HD (HD-MSNs) compared to MSNs derived from younger, pre-symptomatic patients (pre-HD-MSNs) and control MSNs from age-matched healthy individuals...
October 27, 2022: Nature Neuroscience
https://read.qxmd.com/read/35661856/effect-of-electronic-symptom-monitoring-on-patient-reported-outcomes-among-patients-with-metastatic-cancer-a-randomized-clinical-trial
#18
RANDOMIZED CONTROLLED TRIAL
Ethan Basch, Deborah Schrag, Sydney Henson, Jennifer Jansen, Brenda Ginos, Angela M Stover, Philip Carr, Patricia A Spears, Mattias Jonsson, Allison M Deal, Antonia V Bennett, Gita Thanarajasingam, Lauren J Rogak, Bryce B Reeve, Claire Snyder, Deborah Bruner, David Cella, Lisa A Kottschade, Jane Perlmutter, Cindy Geoghegan, Cleo A Samuel-Ryals, Barbara Given, Gina L Mazza, Robert Miller, Jon F Strasser, Dylan M Zylla, Anna Weiss, Victoria S Blinder, Amylou C Dueck
Importance: Electronic systems that facilitate patient-reported outcome (PRO) surveys for patients with cancer may detect symptoms early and prompt clinicians to intervene. Objective: To evaluate whether electronic symptom monitoring during cancer treatment confers benefits on quality-of-life outcomes. Design, Setting, and Participants: Report of secondary outcomes from the PRO-TECT (Alliance AFT-39) cluster randomized trial in 52 US community oncology practices randomized to electronic symptom monitoring with PRO surveys or usual care...
June 28, 2022: JAMA
https://read.qxmd.com/read/35504303/self-reported-driving-difficulty-avoidance-and-negative-emotion-with-on-road-driving-performance-in-older-adults-with-glaucoma
#19
JOURNAL ARTICLE
Sharon L Sabapathypillai, Monica S Perlmutter, Peggy Barco, Bradley Wilson, Mae Gordon, David Carr, Anjali M Bhorade
PURPOSE: To investigate the relationship between self-perceived driving difficulty, driving avoidance, and negative emotion about driving with glaucoma severity and on-road driving performance. DESIGN: Cohort study. METHODS: Glaucoma patients (n = 111), aged 55 to 90 years, with mild, moderate, and advanced glaucoma in the better-eye based on the Glaucoma Staging System, and age-matched controls (n = 47) were recruited from a large tertiary academic center...
April 30, 2022: American Journal of Ophthalmology
https://read.qxmd.com/read/35333449/hold-that-pose-capturing-cervical-dystonia-s-head-deviation-severity-from-video
#20
JOURNAL ARTICLE
Zheng Zhang, Elizabeth Cisneros, Ha Yeon Lee, Jeanne P Vu, Qiyu Chen, Casey N Benadof, Jacob Whitehill, Ryin Rouzbehani, Dominique T Sy, Jeannie S Huang, Terrence J Sejnowski, Joseph Jankovic, Stewart Factor, Christopher G Goetz, Richard L Barbano, Joel S Perlmutter, Hyder A Jinnah, Brian D Berman, Sarah Pirio Richardson, Glenn T Stebbins, Cynthia L Comella, David A Peterson
OBJECTIVE: Deviated head posture is a defining characteristic of cervical dystonia (CD). Head posture severity is typically quantified with clinical rating scales such as the Toronto Western Spasmodic Torticollis Rating Scale (TWSTRS). Because clinical rating scales are inherently subjective, they are susceptible to variability that reduces their sensitivity as outcome measures. The variability could be circumvented with methods to measure CD head posture objectively. However, previously used objective methods require specialized equipment and have been limited to studies with a small number of cases...
May 2022: Annals of Clinical and Translational Neurology
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