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Background: X-linked dystonia-parkinsonism(XDP) is a rare movement disorder primarily affecting males of Filipino descent characterized by dystonia and parkinsonism. This case illustrates a patient with a novel gene variant responsive to deep brain stimulation (DBS). Methods: Case study of Filipino male with XDP followed for 15 years. Results: A 32-year-old Filipino male presented with oromandibular and cervical dystonia which later generalized. He went on to develop parkinsonism with significant gait impairment, incomprehensible speech, and required PEG tube placement. His symptoms were refractory to pharmacologic therapy. At age 43, he underwent bilateral globus pallidus internus (GPi) DBS placement with significant improvement of his symptoms as illustrated by videos accompanying this report. He had marked improvement of gait, speech, and pharyngeal dystonia resulting in removal of his PEG tube with return to full oral intake. He continues to benefit 3 years after DBS placement. Genetic testing identified a missense hemizygous non-coding transcript exon variant TAF1 n.5776C>T which is a novel gene variant of XDP not previously reported in the literature. Conclusions: This case illustrates a patient with a novel TAF1 gene variant associated with XDP not previously reported in the literature. This variant was responsive to bilateral GPi DBS placement.
Background: This retrospective cohort study investigates radiographic factors linked to the success of Endoscopic Third Ventriculostomy (ETV) for hydrocephalus. Methods: We examined 48 patients who underwent ETV between August 2011 and March 2023. Radiographic factors analyzed included the basal skull angle, modified basal skull angle, interpeduncular cistern diameter, prepontine diameter, and approach angle to the third ventricle floor. Statistical analysis was performed using R studio. Results: The cohort had a median age of 41 years, with 22 females. Pathologies included aqueductal stenosis (21 cases), tectal tumors (7), and IVH (5). The mean ETV Success Score (ETVSS) was 76.7. Of the 21 failures, 16 required a shunt. A strong correlation was found between ETVSS and procedure success (p<0.001). Modified basal skull angle (p=0.028), interpeduncular cistern diameter (p<0.001), and approach angle (p<0.001) were all associated with ETV success. Decision tree analysis showed that the inclusion of approach angle to ETVSS improved sensitivity and specificity, reaching 1.0 for both. Conclusions: In conclusion, the study highlights that radiographic factors, particularly the modified basal skull angle, interpeduncular cistern diameter, and approach angle, are key predictors of ETV success. This information can assist neurosurgeons in planning cases more effectively.
Convex geometry is at once simple and amazingly rich. While the classical results go back many decades, during that previous to this book's publication in 1999, the integral geometry of convex bodies had undergone a dramatic revitalization, brought about by the introduction of methods, results and, most importantly, new viewpoints, from probability theory, harmonic analysis and the geometry of finite-dimensional normed spaces. This book is a collection of research and expository articles on convex geometry and probability, suitable for researchers and graduate students in several branches of mathematics coming under the broad heading of 'Geometric Functional Analysis'. It continues the Israel GAFA Seminar series, which is widely recognized as the most useful research source in the area. The collection reflects the work done at the program in Convex Geometry and Geometric Analysis that took place at MSRI in 1996.
We present a fully three-dimensional kinetic framework for modeling intense short pulse lasers interacting with dielectric materials. Our work modifies the open-source particle-in-cell code EPOCH to include new models for photoionization and dielectric optical response. We use this framework to model the laser-induced damage of dielectric materials by few-cycle laser pulses. The framework is benchmarked against experimental results for bulk silica targets and then applied to model multi-layer dielectric mirrors with a sequence of simulations with varying laser fluence. This allows us to better understand the laser damage process by providing new insight into energy absorption, excited particle dynamics and nonthermal excited particle distributions. We compare common damage threshold metrics based on the energy density and excited electron density.
In Chapter 6 we present a general approach relying on the diffusion approximation to prove renewal theorems for Markov chains, so we consider Markov chains which may be approximated by a diffusion process. For a transient Markov chain with asymptotically zero drift, the average time spent by the chain in a unit interval is, roughly speaking, the reciprocal of the drift.
We apply a martingale-type technique and show that the asymptotic behaviour of the renewal measure depends heavily on the rate at which the drift vanishes. As in the last two chapters, two main cases are distinguished, either the drift of the chain decreases as 1/x or much more slowly than that. In contrast with the case of an asymptotically positive drift considered in Chapter 10, the case of vanishing drift is quite tricky to analyse since the Markov chain tends to infinity rather slowly.
In Chapter 3 we consider (right) transient Markov chains taking values in R. We are interested in down-crossing probabilities for them. These clearly depend on the asymptotic properties of the chain drift at infinity.
In Chapter 9 we consider a recurrent Markov chain possessing an invariant measure which is either probabilistic in the case of positive recurrence or σ-finite in the case of null recurrence. Our main aim here is to describe the asymptotic behaviour of the invariant distribution tail for a class of Markov chains with asymptotically zero drift going to zero more slowly than 1/x. We start with a result which states that a typical stationary Markov chain with asymptotically zero drift always generates a heavy-tailed invariant distribution which is very different from the case of Markov chains with asymptotically negative drift bounded away from zero. Then we develop techniques needed for deriving precise tail asymptotics of Weibullian type.
The main goal of Chapter 11 is to demonstrate how the theory developed in the previous chapters can be used in the study of various Markov models that give rise to Markov chains with asymptotically zero drift. Some of those models are popular in stochastic modelling: random walks conditioned to stay positive, state-dependent branching processes or branching processes with migration, stochastic difference equations. In contrast with the general approach discussed here, the methods available in the literature for investigation of these models are mostly model tailored. We also introduce some new models to which our approach is applicable. For example, we introduce a risk process with surplus-dependent premium rate, which converges to the critical threshold in the nett-profit condition. Furthermore, we introduce a new class of branching processes with migration and with state-dependent offspring distributions.
In Chapter 8 we consider a recurrent Markov chain possessing an invariant measure which is either probabilistic in the case of positive recurrence or σ-finite in the case of null recurrence. Our main aim here is to describe the asymptotic behaviour of the invariant distribution tail for a class of Markov chains with asymptotically zero drift proportional to 1/x. We start with a result which states that a typical stationary Markov chain with asymptotically zero drift always generates a heavy-tailed invariant distribution, which is very different from the case of Markov chains with asymptotically negative drift bounded away from zero. Then we develop techniques needed for deriving precise tail asymptotics of power type.
In Introduction we mostly discuss nearest neighbour Markov chains which represent one of the two classes of Markov chains whose either invariant measure in the case of positive recurrence or Green function in the case of transience is available in closed form. Closed form makes possible direct analysis of such Markov chains: classification, tail asymptotics of the invariant probabilities or Green function. This discussion sheds some light on what we may expect for general Markov chains. Another class is provided by diffusion processes which are also discussed in Introduction.
Chapters 4 and 5 of the present monograph deal comprehensively with limit theorems for transient Markov chains. In Chapter 4 we consider drifts of order 1/x, and prove limit theorems including convergence to a Γ-distribution and functional convergence to a Bessel process. We also study the asymptotic behaviour of the renewal measure, which is not straightforward as there is no law of large numbers owing to the comparable contributions of the drift and fluctuations.
In Chapter 10 we consider Markov chains with asymptotically constant (non-zero) drift. As shown in the previous chapter, the more slowly they to zero, the higher are the moments that should behave regularly at infinity. This is needed to make it possible to describe the asymptotic tail behaviour of the invariant measure. Therefore, it is not surprising that in the case of an asymptotically negative drift bounded away from zero we need to assume that the distribution of jumps converges weakly at infinity. This corresponds, roughly speaking, to the assumption that all moments behave regularly at infinity. In this chapter we slightly extend the notion of an asymptotically homogeneous Markov chain by allowing extended limiting random variables.
In Chapter 2 we introduce a classification of Markov chains with asymptotically zero drift, which relies on relations between the drift and the second moment of jumps, with many improvements on the results known in the literature. Additional assumptions are expressed in terms of truncated moments of higher orders and tail probabilities of jumps. Another, more important, contrast with previous results on recurrence/transience is the fact that we do not use concrete Lyapunov test functions (quadratic or similar). Instead, we construct an abstract Lyapunov function which is motivated by the harmonic function of a diffusion process with the same drift and diffusion coefficient.
Chapters 4 and 5 of the present monograph deal comprehensively with limit theorems for transient Markov chains. In Chapter 5 we consider drifts decreasing more slowly than 1/x and prove limit theorems including weak and strong laws of large numbers, convergence to normal distribution, functional convergence to Brownian motion, and asymptotic behaviour of the renewal measure.