A 46-year-old female presented to the emergency room due to the chief complaint of left-sided weakness. By imaging study, she was diagnosed with cerebral infarction. Thrombolytic and antiplatelet agents were not considered due to the "golden hour" for treatment having passed and a low platelet count. The peripheral blood smear, bone marrow biopsy, and aspirate findings were consistent with immu...

Mutations in the AAAS gene coding for the nuclear pore complex protein ALADIN lead to the autosomal recessive disorder triple A syndrome. Triple A patients present with a characteristic phenotype including alacrima, achalasia and adrenal insufficiency. Patient fibroblasts show increased levels of oxidative stress, and several in vitro studies have demonstrated that the nucleoporin ALADIN is inv...

Let X = {Xn, n ≥ 1}, X ′ = {X ′ n, n ≥ 1} and X ′′ = {X ′′ n, n ≥ 1} be three independent copies of a symmetric random walk in Z3 with E(|X1| log+ |X1|) < ∞. In this paper we study the asymptotics of In, the number of triple intersections up to step n of the paths of X , X ′ and X ′′ as n→∞. Our main result is lim sup n→∞ In log(n) log3(n) = 1 π|Q| a.s. where Q denotes the covariance matrix of ...

OBJECTIVE ACTH resistance syndromes are rare, autosomal, and genetically heterogeneous diseases that include familial glucocorticoid deficiency (FGD) and triple A syndrome. FGD has been shown to segregate with mutations in the gene coding for ACTH receptor (MC2R) or melanocortin 2 receptor accessory protein (MRAP), whereas mutations in the triple A syndrome (AAAS, Allgrove syndrome) gene have b...

We introduce the notion of ortho-symplectic super triple system, and apply it to find solutions of super Yang-Baxter equation. Also, the para-statistics are formulated as a Lie-super triple system. Let V be a N-dimensional vector space, which we write hereafter as N = Dim V. A triple product w = [x, y, z] in V is an assignment of w ǫ V for any three elements x, y, z ǫ V , which is linear in eac...

A Steiner triple system of order v (briefly STS(v)) is a pair (X, B), where X is a v-element set and B is a collection of 3-subsets of X (triples), such that every pair of X is contained in exactly one triple of B. It is well known that a necessary and sufficient condition for a STS(v) to exist is that v#1 or 3 (mod 6). An r-coloring of a STS(v) is a map , : X [1, ..., r] such that at least two...

F ragile X syndrome (MIM No 3009550) is the most common inherited mental retardation disorder, affecting approximately 1 in 4000 males and 1 in 8000 females. Its name was derived from the observation of a fragile site on chromosome Xq27.3, designated FRAXA (fragile site, X chromosome, A site). This syndrome is caused by mutations in the fragile X mental retardation-1 gene (FMR1), more than 95% ...