Rubinstein-Taybi Syndrome (RSTS) is an autosomal dominant disorder that is classically characterized by prenatal and postnatal growth restriction, microcephaly, dysmorphic craniofacial features, broad thumbs and toes, and intellectual disability. We describe the first reported case of a pituitary macroadenoma associated with RSTS. A 39-year-old Caucasian female with a past medical history of RS...

Rubinstein-Taybi syndrome (RSTS) is a multiple congenital anomalies syndrome associated with mutations in CREBBP (70%) and EP300 (5-10%). Previous reports have suggested an increased incidence of specific benign and possibly also malignant tumors. We identified all known individuals diagnosed with RSTS in the Netherlands until 2015 (n = 87) and studied the incidence and character of neoplastic ...

Rubinstein-Taybi syndrome (RSTS) can be caused by heterozygous mutations or deletions involving CREBBP or, less commonly, EP300. To date, only 15 patients with EP300 mutations have been clinically described. Frequently reported manifestations in these patients include characteristic facial and limb features, varying degrees of neurocognitive dysfunction, and maternal preeclampsia. Other congeni...

BACKGROUND Thong style flip-flops are a popular form of footwear for children. Health professionals relate the wearing of thongs to foot pathology and deformity despite the lack of quantitative evidence to support or refute the benefits or disadvantages of children wearing thongs. The purpose of this study was to compare the effect of thong footwear on children's barefoot three dimensional foot...

We study an evolution equation proposed by Chapman-Rubinstein-Schatzman as a mean-field model for the evolution of the vortex-density in a superconductor. We treat the case of a bounded domain where vortices can exit or enter the domain. We show that the equation can be derived rigorously as the gradient-flow of some specific energy for the Riemannian structure induced by the Wasserstein distan...

This paper starts with a re-examination of Piccione and Rubinstein’s [Games Econ. Behav. 20 (1997) 3] Absent-Minded Driver problem, and suggests a novel interpretation of Aumann, Hart and Perry’s [Games Econ. Behav. 20 (1997) 102] notion of action-optimality. We then consider several variants of the original problem in which the assumption that the player’s information sets partition the set of...