Results 51 to 60 of about 118,306 (318)
UDP‐glucose dehydrogenase variants cause dystroglycanopathy
Annals of Clinical and Translational Neurology, EarlyView.Abstract UDP‐glucose dehydrogenase (UGDH) variants have been associated with hypotonia, developmental delay, and epilepsy. We report the first pathologic evidence of dystroglycanopathy in siblings with UGDH variants. Both presented around 6 months with developmental delay and elevated creatinine kinase.
Anna M. Reelfs +8 more
wiley +1 more source
Role of cardiac MRI in nonischemic cardiomyopathies
Indian Heart Journal, 2016 Cardiac magnetic resonance (CMR) with its higher spatial resolution is considered the gold standard for evaluating ventricular mass, volumes, and ejection fraction. CMR can be used for accurate diagnosis of several conditions, especially cardiomyopathies.
Senthil Anand, Rajesh Janardhanan
doaj +1 more source
M(otion)-mode Based Prediction of Ejection Fraction using Echocardiograms [PDF]
arXiv, 2023 Early detection of cardiac dysfunction through routine screening is vital for diagnosing cardiovascular diseases. An important metric of cardiac function is the left ventricular ejection fraction (EF), where lower EF is associated with cardiomyopathy.
arxiv
Automated quantification of myocardial tissue characteristics from native T1 mapping using neural networks with Bayesian inference for uncertainty-based quality-control [PDF]
, 2020 Tissue characterisation with CMR parametric mapping has the potential to detect and quantify both focal and diffuse alterations in myocardial structure not assessable by late gadolinium enhancement. Native T1 mapping in particular has shown promise as a useful biomarker to support diagnostic, therapeutic and prognostic decision-making in ischaemic and ...
arxiv +1 more source
The Regulation of Trace Metal Elements in Cancer Ferroptosis
Advanced Biology, EarlyView.The induction of ferroptosis inhibits tumor growth, enhances anticancer efficacy, and overcomes drug resistance. Recent evidence shows nonferrous metal elements play a role in ferroptosis. This review focuses on how trace metals regulate ferroptosis processes like iron accumulation, lipid peroxidation, and antioxidant defense.
Xiaoyan Wang +5 more
wiley +1 more source
Chemical Proteomics Reveals Protein Tyrosination Extends Beyond the Alpha‐Tubulins in Human Cells**
ChemBioChem, Volume 23, Issue 23, December 5, 2022., 2022 Protein post‐translational modifications allow cells to swiftly adjust activity and localization of proteins. Here, we developed a chemical proteomic approach to determine a protein tyrosination status using an O‐propargyl tyrosine probe. We show that tyrosination modifies previously described alpha‐tubulins with ‐EEY C‐terminal sequence together with ...
Dmytro Makarov, Pavel Kielkowski
wiley +1 more source
Deep Learning for Automatic Strain Quantification in Arrhythmogenic Right Ventricular Cardiomyopathy [PDF]
arXiv, 2023 Quantification of cardiac motion with cine Cardiac Magnetic Resonance Imaging (CMRI) is an integral part of arrhythmogenic right ventricular cardiomyopathy (ARVC) diagnosis. Yet, the expert evaluation of motion abnormalities with CMRI is a challenging task.
arxiv
Nature Reviews Disease Primers, 2019 Dilated cardiomyopathy (DCM) is a clinical diagnosis characterized by left ventricular or biventricular dilation and impaired contraction that is not explained by abnormal loading conditions (for example, hypertension and valvular heart disease) or coronary artery disease.
Schultheiss H. -P. +10 more
openaire +5 more sources
Materials Advances in Devices for Heart Disease Interventions
Advanced Materials, EarlyView.This review examines the crucial role of materials in heart disease interventions, focusing on strategies for monitoring, managing, and repairing heart conditions. It discusses the material requirements for medical devices, highlighting recent innovations and their impact on cardiovascular health.
Gagan K. Jalandhra +11 more
wiley +1 more source
Catheterization and Cardiovascular Interventions, Volume 100, Issue 7, Page 1291-1299, December 1, 2022., 2022 Abstract Background Severe tricuspid regurgitation (TR) is independently associated with increased morbidity and mortality. Percutaneous transcatheter approaches may offer an alternative for patients not amenable to surgery. Methods TriCLASP is a prospective, single‐arm, multicenter European post‐market clinical follow‐up study (NCT04614402) to ...
Stephan Baldus +18 more
wiley +1 more source