Results 41 to 50 of about 234,426 (253)

Resident Case Conference: Familial Hypercholesterolemia

, 2022
Rochester General Hospital Medical Grand Rounds for 2022-09-29: 1. RGH Department Meeting: Dr. Chris Reynolds: MAGIC IV Access Protocol 2. Resident Case Conference: Drs.
Jain, Deeptanshu, Sharma, Gaurav
core  

NCOA4 Accelerates Abdominal Aortic Aneurysm Formation by Regulating Macrophage Activation and Ferroptosis via STAT1–CH25H Axis

Advanced Science, EarlyView.
Under pathological stimulation, NCOA4 in macrophages interacts with STAT1 to promote CH25H transcription. The subsequent increase in 25‐HC production activates macrophages, triggers inflammatory responses and ferroptosis, and accelerates the progression of AAA.
Zhinan Wu, Yuxuan Qian, Wenyi Xu, Fei Liao, Xueliang Liu, Xiao Kuang, Guqing Luo, Xinjie He, Lixian Jiang, Song Ding   +9 more
wiley   +1 more source

Mortality Among Patients With Familial Hypercholesterolemia: A Registry‐Based Study in Norway, 1992–2010

, 2014
Background Untreated patients with familial hypercholesterolemia are at increased risk of premature cardiovascular death. The primary aim of this study was to investigate whether this is also the case in the statin era.
Retterstøl, Kjetil, Veierød, Marit B., Mundal, Liv, Leren, Trond P., Iversen, Per Ole, Ose, Leiv, Borgan, Jens‐Kristian, Sarancic, Mirza   +7 more
core   +1 more source

A Rare Form of Microcephalic Primordial Dwarfism due to NSMCE2 Deficiency (Seckel Syndrome Type 10): A Report of Macular Involvement

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Biallelic variants in NSMCE2 (MMS21), which encodes the SUMO E3 ligase subunit of the SMC5/6 chromatin‐maintenance complex, have recently been implicated in microcephalic primordial dwarfism (MPD), corresponding to Seckel syndrome type 10 (OMIM #617246).
Cristina Peduto, Céline Huber, Clément Paya, Isabelle Audo, Nathalie Boddaert, Valérie Cormier‐Daire   +5 more
wiley   +1 more source

Comparative Analysis of Poly(Ethylene Glycol) (PEG) and Poly(2‐Ethyl‐2‐Oxazoline) (PEtOx) for Organic Solvent‐Free Lipid Nanoparticle Formulations

Angewandte Chemie International Edition, EarlyView.
Organic solvent‐free lipid nanoparticles featuring PEtOx‐based stealth lipids enable efficient mRNA and CRISPR‐Cas9 delivery while exhibiting markedly improved biocompatibility compared with PEG‐based analogues. Their successful ex vivo and in vivo performance, combined with data‐driven formulation optimization, establishes a versatile platform that ...
Michael Streiber, Caroline T. Holick, Lucas Gath, Ekaterina Tsarenko, Vivien Bachmann, Stavroula Litsiou, Lukas Harder, Laura J. Rosenberger, Aleksandar Rusevski, Julian Kimmig, Stephan Culemann, Christian Franke, Claudia Waskow, Stephanie Hoeppener, Stephanie Schubert, Matthias Bros, Oliver Werz, Ivo Nischang, Michael Bauer, Adrian T. Press, Ulrich S. Schubert, Anja Traeger   +21 more
wiley   +1 more source

Engineering Biology Beyond Single Genes: Advances and Challenges in Multiplex Genome Editing

Animal Research and One Health, EarlyView.
Multiplex genome editing is transforming genome engineering from single‐gene perturbation to network‐level control, yet its broader application remains limited by challenges in gRNA array engineering, delivery technologies, and safety management. Emerging AI‐driven approaches are accelerating guide RNA design and CRISPR effector optimization for ...
Linli Wang, Yongbin Liu, Hongbing Han
wiley   +1 more source

Diabetes Mellitus Is Associated With Increased Risk for Subsequent Hip Arthroscopy After Index Hip Arthroscopy

Arthroscopy, Sports Medicine, and Rehabilitation, EarlyView.
Purpose To determine whether diabetes mellitus is associated with higher systemic and hip‐specific complications and to evaluate reoperation rates after hip arthroscopy. Methods Using the TriNetX Research Network and Current Procedural Terminology and International Classification of Diseases codes, we identified diabetic and nondiabetic patients aged ...
Nicholas J. Morriss, Justin Harrington, Jacob Waldron, Brian Giordano   +3 more
wiley   +1 more source

Prevalence of familial hypercholesterolemia in patients with acute coronary syndrome [PDF]

Medicinski Glasnik
Aim To investigate the prevalence of familial hypercholesterolemia in patients with acute coronary syndrome (ACS). Methods The study included fifteen patients with first or repeated ACS and treated/nontreated dyslipidaemia admitted to the Department of ...
Željka Dragila, Matea Lozert, Silvija Canecki-Varžić, Kristina Selthofer-Relatić   +3 more
doaj   +1 more source

Optimizing Efficacy to Safety Ratio of Glucocorticoids in Rheumatoid Arthritis Models by Leveraging Peroxisome Proliferator–Activated Nuclear Receptor‐α Agonism

Arthritis &Rheumatology, EarlyView.
Objective Glucocorticoids remain essential therapies for immune and inflammatory diseases such as rheumatoid arthritis (RA) but are notorious for their metabolic side effects. Given the anti‐inflammatory and metabolically favorable actions of peroxisome proliferator–activated nuclear receptor (PPAR) agonists, we investigated whether PPARα agonism could
Lisa L. Koorneef, Elisabeth Gilis, Dorien Clarisse, Daria Fijalkowska, Sara Dufour, Julie Coudeneys, Bert Luyckx, Annick Verhee, Jonathan Thommis, Candice Vanden Bussche, Ulf Müller‐Ladner, Elena Neumann, Matthias Kerkhofs, Guillaume Planckaert, Simon Devos, Leander Meuris, Dirk Elewaut, Karolien De Bosscher   +17 more
wiley   +1 more source

Healthcare activities before familial hypercholesterolemia diagnosis: a nationwide register-based study in Denmark

BMC Primary Care
Background Familial hypercholesterolemia is a common yet underdiagnosed genetic disorder that significantly increases the risk of premature atherosclerotic cardiovascular disease.
Simon Graff, Kirsten Høj, Bo Christensen, Flemming Bro, Helle Lynge Kanstrup, Henrik Schou Pedersen   +5 more
doaj   +1 more source