[Natural history of spinal muscular atrophy type I].

Spinal muscular atrophy (SMA) is a group of genetically heterogeneous neuromuscular diseases characterized by the progressive loss of motor neurons in the anterior horns of the spinal cord. The prevalence of SMA is approximately 1 in 10.000 live births.

The Switching of the Type of a ROS Signal from Mitochondria: The Role of Respiratory Substrates and Permeability Transition.

Flashes of superoxide anion (O) in mitochondria are generated spontaneously or during the opening of the permeability transition pore (mPTP) and a sudden change in the metabolic state of a cell. Under certain conditions, O can leave the mitochondrial matrix and perform signaling functions beyond mitochondria. In this work, we studied the kinetics of the release of O and HO from isolated mitochondria upon mPTP opening and the modulation of the metabolic state of mitochondria by the substrates of respiration and oxidative phosphorylation.

Water as a Structural Marker in Gelatin Hydrogels with Different Cross-Linking Nature.

We have studied the molecular properties of water in physically and chemically cross-linked gelatin hydrogels by FTIR-spectroscopy, NMR relaxation, and diffusivity and broadband dielectric spectroscopy, which are sensitive to dynamical properties of water, being a structural marker of polymer network. All experiments demonstrated definite reinforcement of the hydrogel net structure and an increase in the amount of hydrate water. FTIR experiments have shown that the chemical cross-linking of gelatin molecules initiates an increase in the collagen-like triple helices "strength", as a result of infused restriction on protein molecular mobility.

Segment Anything in Optical Coherence Tomography: SAM 2 for Volumetric Segmentation of Retinal Biomarkers.

Optical coherence tomography (OCT) is a non-invasive imaging technique widely used in ophthalmology for visualizing retinal layers, aiding in the early detection and monitoring of retinal diseases. OCT is useful for detecting diseases such as age-related macular degeneration (AMD) and diabetic macular edema (DME), which affect millions of people globally. Over the past decade, the area of application of artificial intelligence (AI), particularly deep learning (DL), has significantly increased.