Clinical and genetic aspects of Marfan syndrome and familial thoracic aortic aneurysms and dissections

This thesis concerns the clinical and genetic aspects of familial thoracic aortic aneurysms and dissections, in particular in Marfan syndrome. It includes the Dutch multidisciplinary guidelines for diagnosis and management of Marfan syndrome. These guidelines contain practical directions for referring physicians and specialists involved in the recognition, diagnosis, monitoring and treatment of Marfan syndrome. Furthermore, the revised Ghent nosology for Marfan syndrome, established by an international panel of experts, is presented. One chapter concerns a specific subgroup of missense mutations in FBN1 that are predicted to substitute the first aspartic acid of various calcium-binding Epidermal Growth Factor-like (cbEGF) fibrillin-1 domains. One of the mutations was found in a homozygous state in three cases from a large consanguineous family. A series of ten patients carrying a whole-gene deletion of one allele of FBN1 is described in another chapter. In a further chapter a three-generational family is discussed with family members at risk for serious aortic disease as a result of an interstitial deletion of chromosome 15 that disrupts SMAD3. Finally two unrelated children with classic Marfan syndrome and recurrent intracranial hypertension are described.The development of the practical guidelines for the diagnosis and management of Marfan syndrome (Chapter 2)was supported by Stichting Kwaliteitsgelden Medisch Specialisten (SKMS).UBL - phd migration 201

Dilatation of the Great Arteries in an Infant with Marfan Syndrome and Ventricular Septal Defect

We describe an infant presenting with contractures of the fingers, a large ventricular septal defect (VSD), and severe pulmonary artery dilatation. He had clinical and echocardiographic features of both neonatal or infantile Marfan syndrome (MFS) and congenital contractural arachnodactyly. After surgical VSD closure, the aortic root developed progressive dilatation while the size of pulmonary artery returned to normal limits. Eventually the diagnosis of MFS was confirmed by DNA analysis

On q-Gaussians and Exchangeability

The q-Gaussians are discussed from the point of view of variance mixtures of normals and exchangeability. For each q< 3, there is a q-Gaussian distribution that maximizes the Tsallis entropy under suitable constraints. This paper shows that q-Gaussian random variables can be represented as variance mixtures of normals. These variance mixtures of normals are the attractors in central limit theorems for sequences of exchangeable random variables; thereby, providing a possible model that has been extensively studied in probability theory. The formulation provided has the additional advantage of yielding process versions which are naturally q-Brownian motions. Explicit mixing distributions for q-Gaussians should facilitate applications to areas such as option pricing. The model might provide insight into the study of superstatistics.Comment: 14 page

A note on q-Gaussians and non-Gaussians in statistical mechanics

The sum of $N$ sufficiently strongly correlated random variables will not in general be Gaussian distributed in the limit N\to\infty. We revisit examples of sums x that have recently been put forward as instances of variables obeying a q-Gaussian law, that is, one of type (cst)\times[1-(1-q)x^2]^{1/(1-q)}. We show by explicit calculation that the probability distributions in the examples are actually analytically different from q-Gaussians, in spite of numerically resembling them very closely. Although q-Gaussians exhibit many interesting properties, the examples investigated do not support the idea that they play a special role as limit distributions of correlated sums.Comment: 17 pages including 3 figures. Introduction and references expande

Selfsimilar solutions in a sector for a quasilinear parabolic equation

We study a two-point free boundary problem in a sector for a quasilinear parabolic equation. The boundary conditions are assumed to be spatially and temporally "self-similar" in a special way. We prove the existence, uniqueness and asymptotic stability of an expanding solution which is self-similar at discrete times. We also study the existence and uniqueness of a shrinking solution which is self-similar at discrete times.Comment: 23 page

The Connective Tissue Disorder Associated with Recessive Variants in the SLC39A13 Zinc Transporter Gene (Spondylo-Dysplastic Ehlers-Danlos Syndrome Type 3): Insights from Four Novel Patients and Follow-Up on Two Original Cases.

Recessive loss-of-function variants in SLC39A13, a putative zinc transporter gene, were first associated with a connective tissue disorder that is now called "Ehlers-Danlos syndrome, spondylodysplastic form type 3" (SCD-EDS, OMIM 612350) in 2008. Nine individuals have been described. We describe here four additional affected individuals from three consanguineous families and the follow up of two of the original cases. In our series, cardinal findings included thin and finely wrinkled skin of the hands and feet, characteristic facial features with downslanting palpebral fissures, mild hypertelorism, prominent eyes with a paucity of periorbital fat, blueish sclerae, microdontia, or oligodontia, and-in contrast to most types of Ehlers-Danlos syndrome-significant short stature of childhood onset. Mild radiographic changes were observed, among which platyspondyly is a useful diagnostic feature. Two of our patients developed severe keratoconus, and two suffered from cerebrovascular accidents in their twenties, suggesting that there may be a vascular component to this condition. All patients tested had a significantly reduced ratio of the two collagen-derived crosslink derivates, pyridinoline-to-deoxypyridinoline, in urine, suggesting that this simple test is diagnostically useful. Additionally, analysis of the facial features of affected individuals by DeepGestalt technology confirmed their specificity and may be sufficient to suggest the diagnosis directly. Given that the clinical presentation in childhood consists mainly of short stature and characteristic facial features, the differential diagnosis is not necessarily that of a connective tissue disorder and therefore, we propose that SLC39A13 is included in gene panels designed to address dysmorphism and short stature. This approach may result in more efficient diagnosis

Exact eigenspectrum of the symmetric simple exclusion process on the complete, complete bipartite, and related graphs

We show that the infinitesimal generator of the symmetric simple exclusion process, recast as a quantum spin-1/2 ferromagnetic Heisenberg model, can be solved by elementary techniques on the complete, complete bipartite, and related multipartite graphs. Some of the resulting infinitesimal generators are formally identical to homogeneous as well as mixed higher spins models. The degeneracies of the eigenspectra are described in detail, and the Clebsch-Gordan machinery needed to deal with arbitrary spin-s representations of the SU(2) is briefly developed. We mention in passing how our results fit within the related questions of a ferromagnetic ordering of energy levels and a conjecture according to which the spectral gaps of the random walk and the interchange process on finite simple graphs must be equal.Comment: Final version as published, 19 pages, 4 figures, 40 references given in full forma

On a free boundary problem for a two-species weak competition system

[[abstract]]We study a Lotka–Volterra type weak competition model with a free boundary in a one-dimensional habitat. The main objective is to understand the asymptotic behavior of two competing species spreading via a free boundary. We also provide some sufficient conditions for spreading success and spreading failure, respectively. Finally, when spreading successfully, we provide an estimate to show that the spreading speed (if exists) cannot be faster than the minimal speed of traveling wavefront solutions for the competition model on the whole real line without a free boundary.[[incitationindex]]SCI[[booktype]]紙本[[booktype]]電子

Zero-Temperature Phase Transitions of Antiferromagnetic Ising Model of General Spin on a Triangular Lattice

We map the ground-state ensemble of antiferromagnetic Ising model of spin-S on a triangular lattice to an interface model whose entropic fluctuations are proposed to be described by an effective Gaussian free energy, which enables us to calculate the critical exponents of various operators in terms of the stiffness constant of the interface. Monte Carlo simulations for the ground-state ensemble utilizing this interfacial representation are performed to study both the dynamical and the static properties of the model. This method yields more accurate numerical results for the critical exponents. By varying the spin magnitude in the model, we find that the model exhibits three phases with a Kosterlitz-Thouless phase transition at 3/2<S_{KT}<2 and a locking phase transition at 5/2 < S_L \leq 3. The phase diagram at finite temperatures is also discussed.Comment: 15 pages, LaTeX; 10 figures in PostScript files; The revised version appears in PRB (see Journal-ref). New electronic address of first author, [email protected]

Surface Magnetization and Critical Behavior of Aperiodic Ising Quantum Chains

We consider semi-infinite two-dimensional layered Ising models in the extreme anisotropic limit with an aperiodic modulation of the couplings. Using substitution rules to generate the aperiodic sequences, we derive functional equations for the surface magnetization. These equations are solved by iteration and the surface magnetic exponent can be determined exactly. The method is applied to three specific aperiodic sequences, which represent different types of perturbation, according to a relevance-irrelevance criterion. On the Thue-Morse lattice, for which the modulation is an irrelevant perturbation, the surface magnetization vanishes with a square root singularity, like in the homogeneous lattice. For the period-doubling sequence, the perturbation is marginal and the surface magnetic exponent varies continuously with the modulation amplitude. Finally, the Rudin-Shapiro sequence, which corresponds to the relevant case, displays an anomalous surface critical behavior which is analyzed via scaling considerations: Depending on the value of the modulation, the surface magnetization either vanishes with an essential singularity or remains finite at the bulk critical point, i.e., the surface phase transition is of first order.Comment: 8 pages, 7 eps-figures, uses RevTex and epsf, minor correction