Background Polymeraze I and transcript release factor (PTRF) mutations are a newly recognized disease, which cause congenital generalized lipodystrophy associated with myopathy. Case presentation A 29-year-old man (height 126 cm; weight 22 kg) with a PTRF mutation was scheduled for mandibular dentigerous cystectomy. His primary symptoms were lipodystrophy, myopathy, long QT syndrome, refracto...

Background: Mutations in the PTRF-CAVIN gene, coding for cavin-1, cause congenital

INTRODUCTION Patients with lipodystrophy experience selective or generalized atrophy of adipose tissue. The disruption of lipid metabolism results in an increased risk for development of metabolic syndrome and coronary artery disease. Currently, the mutations responsible for approximately half of lipodystrophy patients are known, but new techniques and examination of different types of genetic ...

For a fixed rational number g ∈ {−1, 0, 1} and integers a and d we consider the set Ng(a, d) of primes p such that the order of g modulo p is congruent to a (mod d). Under the Generalized Riemann Hypothesis (GRH), it can be shown that the set Ng(a, d) has a natural density δg(a, d). Arithmetical properties of δg(a, d) are described, and δg(a, d) is compared with δ(a, d): the average density of ...

Prospects for future measurements of Deeply Virtual Compton Scattering at HERMES are studied using different simple models for parameterizations of generalized parton distributions (GPDs). Measurements of the lepton charge and lepton beam helicity asymmetry will yield important input for theoretical models towards the future extraction of GPDs.

We consider a generalized Grad-Shafranov equation (GGSE) in a triangularity-deformed axisymmetric toroidal coordinate system and solve it numerically for the generic case of ITER-like and JET-like equilibria with non-parallel flow. It turns out that increase of the triangularity improves confinement by leading to larger values of the toroidal beta and the safety factor. This result is supported...

Generalized estimating equations (GEE) are commonly employed for the analysis of correlated data. However, the quadratic inference function (QIF) method is increasing in popularity because of its multiple theoretical advantages over GEE. We base our focus on the fact that the QIF method is more efficient than GEE when the working covariance structure for the data is misspecified. It has been sh...