Metastability and Eye Movements: A Dynamical‑Systems Interpretation

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  1. Why metastability is a natural language for gaze behavior The idea that perception, attention, and neural activity evolve through transiently stable states has deep roots in cognitive science and neuroscience. Concepts such as attractors , basins , noise‑induced transitions , and escape times appear in work on perceptual switching, decision‑making, and neural population dynamics (Kelso, 1995; Rabinovich et al., 2008; Deco & Jirsa, 2012). Eye movements, especially the alternation between fixations and saccades ,   fit remarkably well into this metastable picture. The Freidlin–Wentzell theory of rare events (Freidlin & Wentzell, 2012) provides a rigorous mathematical language for these intuitions. 2. Fixations as metastable states  Consider the gaze position X t as the state of a stochastic dynamical system. During a fixation the  gaze remains confined to a small region, microsaccades and noise generate small fluctuations, and the gaze tends to return...
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Next generation sequencing in sporadic retinoblastoma patients reveals somatic mosaicism

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In about 50% of sporadic cases of retinoblastoma, no constitutive RB1 mutations are detected by conventional methods. 

 However, recent research suggests that, at least in some of these cases, there is somatic mosaicism with respect to RB1 normal and mutant alleles. The increased availability of next generation sequencing improves our ability to detect the exact percentage of patients with mosaicism. Using this technology, we re-tested a series of 40 patients with sporadic retinoblastoma: 10 of them had been previously classified as constitutional heterozygotes, whereas in 30 no RB1 mutations had been found in lymphocytes. In 3 of these 30 patients, we have now identified low-level mosaic variants, varying in frequency between 8 and 24%. In 7 out of the 10 cases previously classified as heterozygous from testing blood cells, we were able to test additional tissues (ocular tissues, urine and/or oral mucosa): in three of them, next generation sequencing has revealed mosaicism.

 Present results thus confirm that a significant fraction (6/40; 15%) of sporadic retinoblastoma cases are due to postzygotic events and that deep sequencing is an efficient method to unambiguously distinguish mosaics. Re-testing of retinoblastoma patients through next generation sequencing can thus provide new information that may have important implications with respect to genetic counseling and family care.

 link to the paper

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