Review
Critical Care Medicine
Simon Parlow, Melissa Fay Lepage-Ratte, Richard G. Jung, Shannon M. Fernando, Sarah Visintini, Lee H. Sterling, Pietro Di Santo, Trevor Simard, Juan J. Russo, Marino Labinaz, Benjamin Hibbert, Jerry P. Nolan, Bram Rochwerg, Rebecca Mathew
Summary: A systematic review and meta-analysis compared the use of volatile anaesthetics to conventional sedation in patients admitted with ROSC after OHCA. The results suggested that volatile anaesthetics may be associated with a decreased duration of mechanical ventilation, but the certainty of evidence was low.
Article
Critical Care Medicine
Norbert A. Foudraine, Adam Algargoush, Frits H. van Osch, Alex T. Bos
Summary: The study revealed that using sevoflurane combined with higher targeted temperature management significantly reduced the incidence of delirium in out-of-hospital cardiac arrest patients compared to intravenous sedation combined with traditional cooling protocols. Additionally, this approach also resulted in shorter mechanical ventilation times and ICU stays for patients.
Review
Cardiac & Cardiovascular Systems
Chrysanthos Grigoratos, Alberto Aimo, Andrea Barison, Vincenzo Castiglione, Giancarlo Todiere, Giulia Ricci, Gabriele Siciliano, Michele Emdin
Summary: Muscular dystrophies are a group of inherited disorders with Duchenne muscular dystrophy as the most common form in childhood. Although cardiac magnetic resonance studies have largely been conducted at single centers and with small patient populations, they have provided detailed insights into cardiac involvement patterns in muscular dystrophy, leading to practical recommendations for patient management and diagnosis.
EUROPEAN JOURNAL OF PREVENTIVE CARDIOLOGY
(2021)
Article
Clinical Neurology
Giulio Gadaleta, Guido Urbano, Chiara Brusa, Rossella D'Alessandro, Enrica Rolle, Ilaria Cavallina, Alessio Mattei, Fulvia Ribolla, Claudia Raineri, Stefano Pidello, Liliana Vercelli, Federica S. Ricci, Tiziana E. Mongini
Summary: The clinical characteristics of adults with DMD include mechanical ventilation, swallowing and nutritional issues, and bone density alterations. Other issues include respiratory infections, gastrointestinal symptoms, metabolic acidosis, psychiatric symptoms, and chronic pain. Patients have a negative perception of their physical health but a more positive assessment of their mental health.
EUROPEAN JOURNAL OF NEUROLOGY
(2023)
Article
Biotechnology & Applied Microbiology
Prashant Monian, Chikdu Shivalila, Genliang Lu, Mamoru Shimizu, David Boulay, Karley Bussow, Michael Byrne, Adam Bezigian, Arindom Chatterjee, David Chew, Jigar Desai, Frank Favaloro, Jack Godfrey, Andrew Hoss, Naoki Iwamoto, Tomomi Kawamoto, Jayakanthan Kumarasamy, Anthony Lamattina, Amber Lindsey, Fangjun Liu, Richard Looby, Subramanian Marappan, Jake Metterville, Ronelle Murphy, Jeff Rossi, Tom Pu, Bijay Bhattarai, Stephany Standley, Snehlata Tripathi, Hailin Yang, Yuan Yin, Hui Yu, Cong Zhou, Luciano H. Apponi, Pachamuthu Kandasamy, Chandra Vargeese
Summary: The study describes chemically modified oligonucleotides called AIMers that can efficiently and specifically direct RNA-editing enzymes to edit endogenous transcripts. Fully chemically modified AIMers with chimeric backbones showed enhanced potency and editing efficiency compared to uniformly modified AIMers in vitro. In vivo, AIMers targeted to hepatocytes achieved significant editing without off-target effects in non-human primate liver. This study demonstrates the potential of AIMers for therapeutic applications.
NATURE BIOTECHNOLOGY
(2022)
Article
Medicine, Research & Experimental
Cedric Happi Mbakam, Joel Rousseau, Yaoyao Lu, Anne Bigot, Kamel Mamchaoui, Vincent Mouly, Jacques P. Tremblay
Summary: In this study, researchers used CRISPR-Cas9 prime editing technology to correct a mutation in the DMD gene, resulting in improved editing efficiency and restoration of dystrophin protein expression. Optimization of the reverse transcription template sequence led to a significant increase in the editing percentage of the target nucleotide.
MOLECULAR THERAPY-NUCLEIC ACIDS
(2022)
Review
Biochemistry & Molecular Biology
Justin Cohen, Alec DeSimone, Monkol Lek, Angela Lek
Summary: Facioscapulohumeral muscular dystrophy (FSHD) is a common type of muscular dystrophy, with limited therapeutic development due to complex genetics and poor mechanistic understanding; however, targeting DUX4 has shown promise in advancing clinical trials towards molecular therapies. The field is now poised to accelerate therapeutic discovery and testing with combined advances in FSHD research.
TRENDS IN MOLECULAR MEDICINE
(2021)
Article
Cardiac & Cardiovascular Systems
Erika J. Mejia, Kimberly Y. Lin, Oluwatimilehin Okunowo, Katherine A. Iacobellis, Susan E. Matesanz, John F. Brandsema, Carol A. Wittlieb-Weber, Hannah Katcoff, Heather Griffis, Jonathan B. Edelson
Summary: This study assessed cardiac resource use in patients with Duchenne and Becker muscular dystrophy, finding that patients aged 10 to 18 have higher rates of resource use compared to those under 10, but both age groups fall short of guidelines, highlighting opportunities for optimizing cardiac care.
JOURNAL OF THE AMERICAN HEART ASSOCIATION
(2022)
Article
Chemistry, Medicinal
Lizzia Raffaghello, Elisa Principi, Serena Baratto, Chiara Panicucci, Sara Pintus, Francesca Antonini, Genny Del Zotto, Andrea Benzi, Santina Bruzzone, Paolo Scudieri, Carlo Minetti, Elisabetta Gazzerro, Claudio Bruno
Summary: In this study, the therapeutic effectiveness of a selective P2X7 purinoreceptor antagonist, A438079, was evaluated in limb-girdle muscular dystrophy R3. The results showed that the P2X7 antagonist improved clinical parameters, reduced muscle inflammation and fibrosis, and upregulated immunosuppressive regulatory T cells.
Article
Biology
Hidehiko Okuma, Jeffrey M. Hord, Ishita Chandel, David Venzke, Mary E. Anderson, Ameya S. Walimbe, Soumya Joseph, Zeita Gastel, Yuji Hara, Fumiaki Saito, Kiichiro Matsumura, Kevin P. Campbell
Summary: Post-translational processing and O-glycosylation are critical for the function of Dystroglycan (DG) as a receptor for extracellular matrix (ECM) proteins. Our study demonstrates the importance of protein O-mannose kinase (POMK) and alpha-DGN in the synthesis of matriglycan by LARGE1.
Article
Cardiac & Cardiovascular Systems
Vivian Haffner, Zahra Nourian, Erika M. Boerman, Michelle D. Lambert, Laurin M. Hanft, Maike Krenz, Christopher P. Baines, Dongsheng Duan, Kerry S. McDonald, Timothy L. Domeier
Summary: In this study, the effects of Duchenne muscular dystrophy (DMD) on cardiomyocyte Ca2+ handling were investigated using a mouse model. The results indicate that DMD leads to Ca2+ overload in cardiomyocytes following preload challenge, as well as impaired cardiac function. These findings support the hypothesis that cardiomyocyte Ca2+ overload underlies cardiac dysfunction in muscular dystrophy.
AMERICAN JOURNAL OF PHYSIOLOGY-HEART AND CIRCULATORY PHYSIOLOGY
(2023)
Article
Cell Biology
Laetitia Marcadet, Emma Sara Juracic, Nasrin Khan, Zineb Bouredji, Hideo Yagita, Leanne M. Ward, A. Russell Tupling, Anteneh Argaw, Jerome Frenette
Summary: Cardiomyopathy is a leading cause of death in DMD patients. Inhibition of RANKL-RANK interaction improves muscle and bone functions in mdx mice. Anti-RANKL treatment prevents cardiac hypertrophy and dysfunction by inhibiting NF-κB and PI3K pathways.
Review
Medicine, General & Internal
Mihai Stefan, Cornelia Predoi, Raluca Goicea, Daniela Filipescu
Summary: This article summarizes the mechanisms of myocardial ischemia/reperfusion injury and cardioprotection in cardiac surgery, and provides a comprehensive analysis of outcomes in patients undergoing cardiac surgery with volatile or intravenous anesthesia.
JOURNAL OF CLINICAL MEDICINE
(2022)
Article
Cardiac & Cardiovascular Systems
Eric Himelman, Julie Nouet, Mauricio A. Lillo, Alexander Chong, Delong Zhou, Xander H. T. Wehrens, George G. Rodney, Lai-Hua Xie, Natalia Shirokova, Jorge E. Contreras, Diego Fraidenraich
Summary: Dilated cardiomyopathy, caused by the absence of dystrophin protein, is the leading cause of death in Duchenne muscular dystrophy (DMD). This study shows the dysregulation of connexin-43 (Cx43) protein in the hearts of DMD patients, and suggests that improving microtubule organization and phosphorylation of Cx43 may play a crucial role in correcting cardiac dysfunction in DMD mice.
AMERICAN JOURNAL OF PHYSIOLOGY-HEART AND CIRCULATORY PHYSIOLOGY
(2022)
Article
Oncology
Yu Zhang, Takahiko Nishiyama, Eric N. Olson, Rhonda Bassel-Duby
Summary: Muscular dystrophies are a group of neuromuscular disorders with genetic causes that lead to muscle loss and degeneration. The CRISPR/Cas system offers a new path for treatment, potentially correcting genetic mutations permanently and benefiting skeletal muscle due to its post-mitotic and multinucleated features. However, challenges remain for translating CRISPR/Cas genome editing into a viable therapy for muscular dystrophies.
EXPERIMENTAL CELL RESEARCH
(2021)