Results 181 to 190 of about 1,014,709 (316)

Clinical overview on RASopathies

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, Volume 190, Issue 4, Page 414-424, December 2022., 2022
Abstract RASopathies comprise a group of clinically overlapping developmental disorders caused by genetic variations affecting components or modulators of the RAS‐MAPK signaling cascade, which lead to dysregulation of signal flow through this pathway.
Martin Zenker
wiley   +1 more source

Novel Electroactive Therapeutic Platforms for Cardiac Arrhythmia Management

Advanced Science, EarlyView.
Electroactive platforms offer promising applications in cardiac arrhythmia. Based on their energy sources and mechanisms, electroactive platforms are categorized into i) direct electrical stimulation, ii) self‐powered electroactive systems, iii) physical stimuli‐mediated electroactive systems, and iv) conductive systems, and their applications in ...
Juwei Yang, Longfei Li, Yiran Hu, Zhou Li, Wei Hua   +4 more
wiley   +1 more source

Infantile epileptic spasms syndrome in children with cardiofaciocutanous syndrome: Clinical presentation and associations with genotype

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, Volume 190, Issue 4, Page 501-509, December 2022., 2022
Abstract Gene variants that dysregulate signaling through the RAS‐MAPK pathway cause cardiofaciocutaneous syndrome (CFCS), a rare multi‐system disorder. Infantile epileptic spasms syndrome (IESS) and other forms of epilepsy are among the most serious complications.
Daniel L. Kenney‐Jung, Dante J. Rogers, Samuel J. Kroening, Abigail L. Zatkalik, Ashley E. Whitmarsh, Amy E. Roberts, Martin Zenker, Maria Luigia Gambardella, Ilaria Contaldo, Chiara Leoni, Roberta Onesimo, Giuseppe Zampino, Marco Tartaglia, Domenica I. Battaglia, Elizabeth I. Pierpont   +14 more
wiley   +1 more source

Surgical management of traumatic left ventricular aneurysm using the Dor technique: a case presentation

The Cardiothoracic Surgeon
Background Left ventricular aneurysms are typically caused by myocardial infarction but can also result from blunt chest trauma, though this is rare. They can lead to complications such as heart failure, arrhythmias, and sudden death. This report aims to
Tran Thuc Khang
doaj   +1 more source

Left ventricular function in left ventricular noncompaction – does compaction matter? [PDF]

International Journal of Cardiology, 2021
openaire   +4 more sources

A Self‐Assembling LYTAC Mediates CTGF Degradation and Remodels Inflammatory Tumor Microenvironment for Triple‐Negative Breast Cancer Therapy

Advanced Science, EarlyView.
A CTGF‐LYTAC nanoplatform is developed to selectively degrade connective tissue growth factor (CTGF) in triple‐negative breast cancer (TNBC), inhibiting TGF‐β signaling and cell interactions in the tumor microenvironment (TME). This strategy effectively suppresses tumor growth and metastasis, outperforming antibody‐based therapy.
Jia‐Yi Lin, Ye Wu, Xiao‐Hui Liang, Min Tang, Xin Sun, Sheng‐Xin Lu, Jin‐Mei Jin, Xin Guo, Bei Wang, Hong‐Zhuan Chen, Wei‐Dong Zhang, Xin Luan   +11 more
wiley   +1 more source

Autism and mild epilepsy associated with a de novo missense pathogenic variant in the GTPase effector domain of DNM1

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView., 2023
Abstract Dynamin 1 is a GTPase protein involved in synaptic vesicle fission, which facilitates the exocytosis of neurotransmitters necessary for normal signaling. Pathogenic variants in the DNM1 gene are associated with intractable epilepsy, often manifested as infantile spasms at onset, developmental delay, and a movement disorder, and are located in ...
Davide Mei, Elena Parrini, Claudia Bianchini, Maria Luisa Ricci, Renzo Guerrini   +4 more
wiley   +1 more source

Automatic Left Ventricular Cavity Segmentation via Deep Spatial Sequential Network in 4D Computed Tomography Studies [PDF]

arXiv
Automated segmentation of left ventricular cavity (LVC) in temporal cardiac image sequences (multiple time points) is a fundamental requirement for quantitative analysis of its structural and functional changes. Deep learning based methods for the segmentation of LVC are the state of the art; however, these methods are generally formulated to work on ...
arxiv  

Left ventricular diastolic function in scleroderma [PDF]

Rheumatology, 1997
C. Montecucco, R. Caporali, S. Rossi, A. Gola, G. Finardi   +4 more
openaire   +4 more sources

Injectable and Sprayable Thermoresponsive Hydrogel with Fouling‐Resistance as an Effective Barrier to Prevent Postoperative Cardiac Adhesions

Advanced Science, EarlyView.
Postoperative cardiac adhesions lead to numerous difficulties in reoperation procedures. Here, a thermo‐responsive in situ formed hydrogel is shown to can reliably cover the wounds after a convenient spraying or injection and significantly reduce adhesion formation in primary and recurrent cardiac injury adhesion models.
Kun Shi, Tao Li, Xulin Hu, Wen Chen, Yan Yu, Zhongwu Bei, Liping Yuan, Qi Tong, Jiafeng Liu, Qiang Fan, Yongjun Qian, Zhiyong Qian   +11 more
wiley   +1 more source