Results 71 to 80 of about 611,997 (371)
American Journal of Medical Genetics Part A, Volume 191, Issue 2, Page 479-489, February 2023., 2023 Abstract To optimize care for children with Marfan syndrome (MFS) in the Netherlands, Dutch MFS growth charts were constructed. Additionally, we aimed to investigate the effect of FBN1 variant type (haploinsufficiency [HI]/dominant negative [DN]) on growth, and compare MFS‐related height increase across populations.
Peter Lauffer +16 more
wiley +1 more source
Radiopharmaceuticals in cardiology
Nuclear Medicine Review, 2012 Myocardial perfusion studies are among the most often performed investigations in Nuclear Medicine. However, the development of radiopharmaceuticals for cardiology is an emerging discipline and several other radiotracers have been proven to be useful.
Piotr Garnuszek, Renata Mikolajczak
openaire +4 more sources
Advanced Science, EarlyView.Comprehensive epigenomic and transcriptomic profiling revealed a dynamic enhancer landscape and gene expression program associated with nephrolithiasis, highlighting RXRα as a central transcription factor in this regulatory network. Tubular‐specific deletion of RXRα increased intrarenal CaOx crystal deposition, while its activation with Bexarotene ...
Yu Yang +12 more
wiley +1 more source
Chinese Expert Consensus on the Diagnosis and Treatment of Adult Fabry Disease Cardiomyopathy
罕见病研究Fabry disease (FD) is an X-linked genetic disorder caused by mutations in the GLA gene. It leads to reduced or complete deficiency of the activity of α-galactosidase A (α-Gal A), resulting in an accumulation of the metabolic substrate ...
Chinese Society of Cardiology +1 more
doaj +1 more source
Circulation, 2013 The medical profession should play a central role in evaluating the evidence related to drugs, …
C. Yancy +23 more
semanticscholar +1 more source
Advanced Science, EarlyView.Ca2+/calmodulin‐dependent kinase II (CaMKII) activation is likely driven by oxidative stress, particularly excessive reactive oxygen species (ROS) production. This study identifies P21‐activated kinase 2 (Pak2) as a novel regulator of ROS‐induced CaMKII activation and abnormal Ca2⁺ dynamics in acute adrenergic and chronic pressure‐overload stressed ...
Tao Li +21 more
wiley +1 more source
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 +14 more
wiley +1 more source
Synthetic Data and Health Privacy [PDF]
This Viewpoint discusses generative artificial intelligence and safeguarding privacy by using synthetic data as a substitute for private health data.
arxiv +1 more source
Berberine is a Novel Mitochondrial Calcium Uniporter Inhibitor that Disrupts MCU‐EMRE Assembly
Advanced Science, EarlyView.Berberine, a safe and FDA‐approved drug, is identified as a novel mitochondrial calcium uniporter (MCU) inhibitor. By disrupting MCU‐EMRE interaction, Berberine prevents mitochondrial calcium overload and protects against ischemia/reperfusion injury, offering a promising therapeutic strategy for diseases linked to mitochondrial calcium dysregulation ...
Haixin Zhao +17 more
wiley +1 more source
ECG Classification with a Convolutional Recurrent Neural Network [PDF]
arXiv, 2020 We developed a convolutional recurrent neural network to classify 12-lead ECG signals for the challenge of PhysioNet/ Computing in Cardiology 2020 as team Pink Irish Hat. The model combines convolutional and recurrent layers, takes sliding windows of ECG signals as input and yields the probability of each class as output.
arxiv