Pearson syndrome (PS) is a multisystem disease including refractory anemia, vacuolization of marrow precursors and pancreatic fibrosis. The disease starts during infancy and affects various tissues and organs, and most affected children die before the age of 3years. Pearson syndrome is caused by de novo large-scale deletions or, more rarely, duplications in the mitochondrial genome. In the present

Mitochondrial DNA defects were known to be associated with a wide spectrum of human diseases and patients might present a wide range of clinical features in various combinations. In the current study, we described a patient with psychomotor and neurodevelopmental delay, mild hyperintensity of posterior periventicular white matter, generalized clonic seizures, leukodystrophy, and congenital deafnes

Silicon photomultipliers (SiPMs) are an enabling solid-state technology for low light sensing, with single photon sensitivity and photon number resolving capability. They feature an extremely high internal gain at the 106 level, comparable to photomultiplier tubes (PMTs), with the advantage of low operating voltage (~50 V compared to ~1000 V for PMT) and low energy consumption. The solid-state tec

One mechanism of resistance of prostate cancer (PCa) to enzalutamide (MDV3100) treatment is the increased expression of AR variants lacking the ligand binding-domain, the best characterized of which is AR-V7. We have previously reported that Phosphatidylinositol-4-phosphate 5-kinase alpha (PIP5Kα), is a lipid kinase that links to CDK1 and AR pathways. The discovery of PIP5Kα inhibitor highlight th

Mortgage markets in developing economies, both past and present, are often confined to social networks between private individuals. The inadequate registration of ownership of and encumbrances on borrowers' real estate has been offered as a reason for this, but it is questionable whether such registration provides either a simple or a complete explanation. This paper analyses mortgage markets betw

It is unknown whether patients as a consequence of prosthetic joint replacement are at a higher risk of developing cancer. We therefore analyzed cancer incidence following prosthetic knee replacement (TKR). The observed cancer incidence in 14,551 patients from the population-based Swedish Knee Arthroplasty Register who have undergone TKR because of osteoarthrosis (OA, n = 10,120) or rheumatoid art

A research-based understanding of permafrost distribution at a sufficient spatial resolution is important to meet the demands of science, education and society. We present a new permafrost map for Norway, Sweden and Finland that provides a more detailed and updated description of permafrost distribution in this area than previously available. We implemented the CryoGRID1 model at 1km2 resolution,

Nocturnal dung beetles (Scarabaeus satyrus) are currently the only animals that have been demonstrated to use the Milky Way for reliable orientation. In this study, we tested the capacity of S. satyrus to orient under a range of artificial celestial cues, and compared the properties of these cues with images of the Milky Way simulated for a beetle’s visual system. We find that the mechanism that p

Night vision is ultimately about extracting information from a noisy visual input. Several species of nocturnal insects exhibit complex visually guided behaviour in conditions where most animals are practically blind. The compound eyes of nocturnal insects produce strong responses to single photons and process them into meaningful neural signals, which are amplified by specialized neuroanatomical

AZD5423 is a selective glucocorticosteroid receptor modulator developed for the inhaled use in asthma and COPD. This study reports the initial, first-in-man, single and repeat dose-escalating studies in healthy male individuals, including one cohort of male Japanese individuals. Inhaled, nebulized AZD5423 was safe and well tolerated up to and including the highest doses tested for up to 2 weeks of

This article demonstrates that typical restrictions which are imposed in dialogical logic in order to recover first-order logical consequence from a fragment of natural language argumentation are also forthcoming from preference profiles of boundedly rational players, provided that these players instantiate a specific player type and compute partial strategies. We present two structural rules, whi

Background and purpose — Backside wear of the polyethylene insert in total knee arthroplasty (TKA) can produce clinically significant levels of polyethylene debris, which can lead to loosening of the tibial component. Loosening due to polyethylene debris could theoretically be reduced in tibial components of monoblock polyethylene design, as there is no backside wear. We investigated the effect of

Introduction Clinical trials in Alzheimer's disease are aimed at early stages of disease, including preclinical Alzheimer's disease. The high cost and time required to screen large numbers of participants for Aβ pathology impede the development of novel drugs. This study's objective was to evaluate the extent to which inexpensive and easily obtainable information can reduce the number of screen fa

Perturbation problems for operators with embedded eigenvalues are generally challenging since the embedded eigenvalues cannot be separated from the rest of the spectrum. In this paper, we study a perturbation problem for embedded eigenvalues for a magnetic Schrödinger operator, when the underlying domain is a cylinder. The magnetic potential is C2 with an algebraic decay rate as the unbounded vari

We present a biologically inspired model for estimating the position of a moving target that is invariant to the target's contrast. Our model produces a monotonic relationship between position and output activity using a divisive normalization between the 'receptive fields' of two overlapping, wide-field, small-target motion detector (STMD) neurons. These visual neurons found in flying insects, li