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PURPOSE. The purpose of this study was to clinically characterize patients with CNGA3-linked achromatopsia (CNGA3-ACHM) in preparation of a gene therapy trial. METHODS. Thirty-six patients (age 7-56 years) with complete (cACHM) or incomplete (iACHM) CNGA3-ACHM were examined, including detailed psychophysical tests, extended electrophysiology, and assessment of morphology by fundus autofluorescence
Light represents one of the most reliable environmental cues in the biological world. In this review we focus on the evolutionary consequences to changes in organismal photic environments, with a specific focus on the class Insecta. Particular emphasis is placed on transitional forms that can be used to track the evolution from (1) diurnal to nocturnal (dim-light) or (2) surface to subterranean (a
There is a growing body of literature showing that health in infancy has a strong influence on health and productivity later in life. This paper uses exogenous improvements in infant health generated by the introduction of a medical innovation in the late 1930s as treatment against several infectious diseases, in particular pneumonia reduced by the advent of the sulfa medicaments. Based on rich ad
International bi-lateral agreements to support the conservation of rainforests to reduce greenhouse gas emissions are growing in prevalence. In 2009, the governments of Guyana and Norway established Guyana’s Low Carbon Development Strategy (LCDS). We examine the extent to which the participation and inclusion of Guyana’s indigenous population within the LCDS is being achieved. We conducted a sing
This paper investigates the causal effect of monetary policy on economic activity in the United Kingdom between 1890 and 1913. Based on the Romer and Romer (2004) narrative identification approach, I find that following a one percentage point monetary tightening, unemployment rose by 0.8 percentage points, while inflation fell by 2.7 percentage points. In addition, monetary policy shocks accounted
Treatment with chemotherapy, radiotherapy, or surgery that involves reproductive organs can cause impaired spermatogenesis, testosterone deficiency, and physical sexual dysfunction in male pubertal, adolescent, and young adult cancer survivors. Guidelines for surveillance and management of potential adverse effects could improve cancer survivors' health and quality of life. Surveillance recommenda
IMPORTANCE The majority of individuals with type 1 diabetes do not meet recommended glycemic targets. OBJECTIVE To evaluate the effects of continuous glucose monitoring in adults with type 1 diabetes treated with multiple daily insulin injections. DESIGN, SETTING, AND PARTICIPANTS Open-label crossover randomized clinical trial conducted in 15 diabetes outpatient clinics in Sweden between February
In boreal bogs plant species are low in number, but they differ greatly in their growth forms and photosynthetic properties. We assessed how ecosystem carbon (C) sink dynamics were affected by seasonal variations in the photosynthetic rate and leaf area of different species. Photosynthetic properties (light response parameters), leaf area development and areal cover (abundance) of the species were
In situ knowledge of the gas phase around a catalyst is essential to make an accurate correlation between the catalytic activity and surface structure in operando studies. Although ambient pressure X-ray photoelectron spectroscopy (AP-XPS) can provide information on the gas phase as well as the surface structure of a working catalyst, the gas phase detected has not been spatially resolved to date,
HAMLET (Human Alpha-lactalbumin Made LEthal to Tumor cells) is a tumoricidal protein-lipid complex with broad effects against cancer cells of different origin. The therapeutic potential is emphasized by a high degree of specificity for tumor tissue. Here we review early studies of HAMLET, in collaboration with the Orrenius laboratory, and some key features of the subsequent development of the HAML
The Wnt signaling pathway is essential in regulating various cellular processes. Different mechanisms of inhibition for Wnt signaling have been proposed. Besides β-catenin degradation through the proteasome, nemo-like kinase (NLK) is another molecule that is known to negatively regulate Wnt signaling. However, the mechanism by which NLK mediates the inhibition of Wnt signaling was not known. In th
We have developed a dual-focus coherent anti-Stokes Raman scattering (CARS) microscope based on a dual output, compact fiber laser source. The underlying concepts of time-multiplexed, two-beam scanning and demultiplexed detection that we already employed for second-harmonic generation are here naturally extended for CARS microscopy. The layout of a robust, all-fiber laser source was reconfigured t
Free bare gold clusters in the size range from few tens to few hundred atoms (≤1 nm dimensions) have been produced in a beam, and the size-dependent development of their full valence band including the 5d and 6s parts has been mapped 'on the fly' by synchrotron-based photoelectron spectroscopy. The Au 4f core level has been also probed, and the cluster-specific Au 4f ionization energies have been
This tutorial presents an introduction to power scaling concepts for high-order harmonic generation (HHG) and attosecond pulse production. We present an overview of state-of-the-art HHG-based extreme ultraviolet (XUV) sources, followed by a brief introduction to basic principles underlying HHG and a detailed discussion of macroscopic effects and scaling principles. Particular emphasis is put on a
The Vel blood group antigen is expressed on the red blood cells of most individuals. Recently, we described that homozygosity for inactivating mutations in SMIM1 defines the rare Vel-negative phenotype. Still, Vel-positive individuals show great variability in Vel antigen expression, creating a risk for Vel blood typing errors and transfusion reactions. We fine-mapped the regulatory region located
Understanding mechanisms by which a population of beige adipocytes is increased in white adipose tissue (WAT) reflects a potential strategy in the fight against obesity and diabetes. Cyclic adenosine monophosphate (cAMP) is very important in the development of the beige phenotype and activation of its thermogenic program. To study effects of cyclic nucleotides on energy homeostatic mechanisms, mic
