Results 51 to 60 of about 780,162 (269)

Bi‐ and Mono‐Allelic RFC1 Expansion in a North American Cohort With Idiopathic Axonal Neuropathy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective RFC1 biallelic repeat expansion is increasingly recognized as a cause of chronic idiopathic axonal polyneuropathy (CIAP), but it remains challenging to know who to test. This study aims to determine the prevalence of biallelic and monoallelic RFC1 expansions and their corresponding neuropathy phenotypes in CIAP patients and identify ...
Amro M. Stino, Lavanya Muthukumar, Evan L. Reynolds, Peter Todd, Sinem Ovunc, Sheng Chih Jin, Zitian Tang, Simone Thomas, PNRR Study Group, Ahmet Höke, Brian C. Callaghan, Sarah Berth, Vinay Chaudhry, David Cornblath, Leana Doherty, Lindsey Hayes, Hristelina Ilieva, Thomas Lloyd, Mohammad Khoshnoodi, Brett McCray, Brett Morrison, Bipasha Mukherjee‐Clavin, Lyle Ostrow, Michael Polydefkis, Ricardo Roda, Charlotte Sumner   +25 more
wiley   +1 more source

An Active-Targeted ZIF8-Based Nanotheranostic Platform for Ultrasound Imaging-Guided Synergistic Therapy of Triple-Negative Breast Cancer

International Journal of Nanomedicine
Xiaoxiao Li,1 Qi Zhou,2 Shaobo Duan,3 Linlin Zhang,2 Zesheng Li,2 Si Chen,2 Yue Yuan,2 Yuanyuan Liu,2 Yanghui Li,2 Xiguo Cai,4 Yuzhou Wang,5 Lianzhong Zhang1,3,4 1Department of Ultrasound, Henan University People’s Hospital, Henan Provincial People’s ...
Li X, Zhou Q, Duan S, Zhang L, Li Z, Chen S, Yuan Y, Liu Y, Li Y, Cai X, Wang Y, Zhang L   +11 more
doaj  

Re‐Purposing Sapropterin (Kuvan) for ACTA2‐Related Multisystemic Smooth Muscle Dysfunction Syndrome: A Translational Mechanistic and First‐In‐Human Therapeutic Report

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Multisystemic smooth muscle dysfunction syndrome (MSMDS) is an ultra‐rare, ACTA2‐related disorder characterized by severe cerebrovascular disease, aortic aneurysms, and smooth muscle dysfunction. Using molecular dynamics simulations and in silico drug screening, we identified that sapropterin dihydrochloride (Kuvan) is a candidate capable of ...
Moran Hausman‐Kedem, Noa Bielopolski, Vijai Krishnan, Shane Wald‐Altman, Shelly I Shrian, Omer Bar‐Yosef, Livia Kapusta, Claire Shamber, Patricia L. Musolino, Miguel Weil   +9 more
wiley   +1 more source

Multi-societal expert consensus statement on the safe administration of ultrasound contrast agents

Echo Research and Practice
Contrast enhanced ultrasound (CEUS) offers a safe, reliable imaging option to establish a clinical diagnosis across a variety of multidisciplinary settings.
Jordan B. Strom, Andrew Appis, Richard G. Barr, Maria Cristina Chammas, Dirk-André Clevert, Kassa Darge, Linda Feinstein, Steven B. Feinstein, J. Brian Fowlkes, Beverly Gorman, Pintong Huang, Yuko Kono, Juan Lopez-Mattei, Andrej Lyshchik, Michael L. Main, Wilson Matthias, Christina Merrill, Sharon L. Mulvagh, Petros Nihoyannopoulos, Joan Olson, Fabio Piscaglia, Thomas Porter, Arnaldo Rabischoffsky, Roxy Senior, Jessica L. Stout, Maria Stanczak, Stephanie R. Wilson, the International Contrast Ultrasound Society with endorsement from the British Society of Echocardiography, the Canadian Society of Echocardiography, the Society of Diagnostic Medical Sonography, the Society for Pediatric Radiology, the World Federation of Ultrasound in Medicine and Biology, the Brazilian College of Radiology, the Joint Review Committee for Diagnostic Medical Sonography, the Chinese Ultrasound Doctors Association, the American Society of Neuroimaging and affirmation/support from the American Society of Echocardiography , the Association for Medical Ultrasound, and the Society for Vascular Ultrasound   +36 more
doaj   +1 more source

Artificial Intelligence in Systemic Sclerosis: Clinical Applications, Challenges, and Future Directions

Arthritis Care &Research, EarlyView.
Systemic sclerosis (SSc) is a rare autoimmune disease defined by immune dysregulation, vasculopathy, and progressive fibrosis of the skin and internal organs. Despite advances in care, major complications such as interstitial lung disease (ILD) and myocardial involvement remain the leading causes of morbidity and mortality.
Cristiana Sieiro Santos, José Miguel Sequí‐Sabater, Diego Benavent   +2 more
wiley   +1 more source

Health Care Use Among Patients Presenting to Emergency Department for Gout Flares in Ontario, Canada: A Population‐Based Health Systems Analysis

Arthritis Care &Research, EarlyView.
Objective We characterized emergency department (ED) gout visits and identified patient characteristics and health services patterns contributing to ED presentations. Methods We conducted a population‐based study of ED gout visits in Ontario, Canada, between 2014 and 2023.
Timothy S. H. Kwok, Samantha Morais, William K. Silverstein, Clare L. Atzema, Gregory Choy, Priyanka Chandratre, Ping Li, Jessica Widdifield   +7 more
wiley   +1 more source

Immunosuppressive Drug Use in Limited Systemic Sclerosis: An International Survey

Arthritis Care &Research, EarlyView.
Objective Current guidelines recommend immunosuppressive treatment for diffuse cutaneous systemic sclerosis but are less clear on their use in limited cutaneous systemic sclerosis (lcSSc) in the absence of internal organ complications. We conducted an international survey to understand current immunosuppressive drug prescribing patterns in lcSSc ...
Sabrina Hoa, Yicheng Mu, Marie Hudson, Janet Pope   +3 more
wiley   +1 more source

Anorectal Dysfunction in Systemic Sclerosis: Clinical Phenotypes and Functional Patterns

Arthritis Care &Research, EarlyView.
Objective The aim of this study was to characterize specific physiologic defects in anorectal dysfunction in systemic sclerosis (SSc) using anorectal manometry (ARM), evaluate associations with gastrointestinal (GI) and extraintestinal clinical phenotypes, and explore potential serologic markers for risk stratification.
Timothy Kaniecki, Alireza Amindarolzarbi, Tsion Abdi, John Clarke, Michael Hughes, Ami A. Shah, Zsuzsanna H. McMahan   +6 more
wiley   +1 more source

Shear Wave Elastography to Quantitatively Assess the Early Changes of Skin Elasticity in Patients with Chronic Venous Disease of the Lower Extremity

International Journal of General Medicine
Dan Lv,1,* Xi Yang,1,* Xin Mao,1,* Mei Zhang,1,* Xuemeihui Ma,1 Yuanyuan Liu,1 Guangsen Li,1 Bingbing Yang2 1Department of Ultrasound, The Second Affiliated Hospital of Dalian Medical University, Dalian, Liaoning, 116027 ...
Lv D, Yang X, Mao X, Zhang M, Ma X, Liu Y, Li G, Yang B   +7 more
doaj  

Mechanochemical Synthesis and Characterization of Nanostructured ErB4 and NdB4 Rare‐Earth Tetraborides

Advanced Engineering Materials, Volume 27, Issue 6, March 2025.
ErB4 and NdB4 nanostructured powders are produced by mechanochemical synthesis. 5 h mechanical alloying and 4 M HCl acid leaching are used in the production. ErB4 and NdB4 powders exhibit maximum magnetization of 0.4726 emu g−1 accompanied with an antiferromagnetic‐to‐paramagnetic phase transition at about TN = 18 K and 0.132 emu g−1 with a maximum at ...
Burçak Boztemur, Faruk Kaya, Bora Derin, Mustafa Lütfi Öveçoğlu, Ju Li, Duygu Ağaoğulları   +5 more
wiley   +1 more source