Sökresultat

Purpose: Heterozygous mutations in OTX2 have been associated with a range of ocular and pituitary abnormalities. We report a novel heterozygous deletion in OTX2 underlying early-onset retinal dystrophy with atypical maculopathy. Methods: Clinical examination included electroretinography and multimodal retinal imaging. Molecular genetic testing was composed of next-generation sequencing of a panel

We explore the distribution of sponges along dissolved silica (dSi) concentration gradients to test whether sponge assemblages are related to dSi and to assess the validity of fossil sponges as a palaeoecological tool for inferring dSi concentrations of the past oceans. We extracted sponge records from the publically available Global Biodiversity Information Facility (GBIF) database and linked the

Background: Few studies have assessed treatment-seeking behavior and patient characteristics in pathological gambling focusing on psychiatric comorbidity, particularly in a setting of heavy exposure to online gambling. This study aimed to address patient characteristics in a novel health care-based treatment modality for pathological gambling, including potential associations between gambling type

In this work, we investigate the magnetic-field- and hyperfine-induced P03→S01 transitions in Be- and Ne-like ions along the respective isoelectronic sequence by using the multiconfiguration Dirac-Hartree-Fock method. The transition probabilities are in this case dependent on the magnetic hyperfine quantum number MF of the upper state. We show that it is important to include perturbers with ΔF=±1.

Background: Many with a mental illness have an impoverished everyday life with few meaningful activities and a sedentary lifestyle. The study aim was to evaluate the effectiveness of the 16-week Balancing Everyday Life (BEL) program, compared to care as usual (CAU), for people with mental illness in specialized and community-based psychiatric services. The main outcomes concerned different aspects

In order to obtain more detailed characteristics and information in highly turbulent flames, for a better understanding of the transient behavior of eddies in such flames, a measurement technique with sufficient temporal resolution is requested. However, the probing of species distributions relevant in combustion (e.g. OH, CH2O) with ultra-high-speed laser diagnostics still remains a challenge. Nd

Background: Individuals with severe alpha-1 antitrypsin deficiency (AATD) have an increased risk of developing COPD. However, outcomes during long-term oxygen therapy (LTOT) in patients with severe AATD and hypoxemia are unknown. Patients and methods: This was a prospective, population-based, consecutive cohort study of patients on LTOT due to COPD in the period from January 1, 1987, to June 30, 2

Introduction: Clinical trials have shown promising results for extended half-life factor VIII concentrates but little is known about individuals' valuation of haemophilia treatment attributes. Aim: To assess patient/caregiver and population valuation of treatment attributes of prophylactic regimens for people with severe haemophilia A. Methods: Members ≥16 years of the Swedish Haemophilia Society

Introduction: In 2011, the St. Gallen Consensus Conference introduced the use of pathology to define the intrinsic breast cancer subtypes by application of immunohistochemical (IHC) surrogate markers ER, PR, HER2 and Ki67 with a specified Ki67 cutoff (>14%) for luminal B-like definition. Reports concerning impaired reproducibility of Ki67 estimation and threshold inconsistency led to the initiatio

The theory of turbulent diffusion of chemically reacting gaseous admixtures developed previously [T. Elperin, Phys. Rev. E 90, 053001 (2014)PLEEE81539-375510.1103/PhysRevE.90.053001] is generalized for large yet finite Reynolds numbers and the dependence of turbulent diffusion coefficient on two parameters, the Reynolds number and Damköhler number (which characterizes a ratio of turbulent and reac

Background: The European directive on basic safety standards (Council directive 2013/ 59 Euratom) mandates dosimetry-based treatment planning for radiopharmaceutical therapies. The directive comes into operation February 2018, and the aim of a report produced by the Internal Dosimetry Task Force of the European Association of Nuclear Medicine is to address this aspect of the directive. A summary o

The experimental fingerprints for large deformation in the triaxial strongly deformed (TSD) bands of 163,165,167Lu are discussed. It is argued that these fingerprints are not very convincing. On the contrary, especially the fact that there exist strong interactions between the TSD bands and normal-deformed (ND) bands indicates that the deformation of the TSD bands cannot be very different from tha

Two-dimensional (2D) spectroscopy has been intensively used to study electronic and vibronic coherences in biological systems and semiconductors. This technique studies coherent as well as incoherent signals that arise from the nonlinear interaction of a sequence of laser pulses. In this paper we present a direct evaluation of the 2D signal based on elementary quantum kinetics in order to compare