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Purpose: To report five novel genetic variants in seven unrelated consanguineous families with achromatopsia (ACHM). Methods: Patients were examined with multimodal retinal imaging and full-field electroretinography (ffERG). Genetic testing was conducted using next-generation sequencing (NGS). Results: Three novel homozygous variants were detected in CNGA3: a missense c.967G > C (p.Ala323Pro) vari
Artikeln behandlar det arbete som bedrevs på konstmuseerna, med attribution och katalogisering i centrum. Här berörs de värderingar av kopior och original som gradvis ändrades under 1800-talet samt bandet mellan den konsthistoriska utövningen på universiteten och museerna.
Introduction: Survival in patients with cyanotic congenital heart disease (CCHD) has improved dramatically. The result is an ageing population with risk of acquired heart disease. Previous small uncontrolled studies suggested that these patients are protected against the development of atherosclerosis. To test this hypothesis, we sought to determine the prevalence of subclinical atherosclerosis in
Surface–atmosphere energy exchange is strongly ecosystem-specific. At the same time, as the energy balance constitutes responses of an ecosystem to environmental stressors including precipitation, humidity and solar radiation, it results in feedbacks of potential importance for the regional climate. Northern peatlands represent a diverse class of ecosystems that cover nearly 6 × 106 km2 in the Bor
Importance: Targeted alpha therapy attempts to deliver systemic radiation selectively to cancer cells while minimizing systemic toxic effects and may lead to additional treatment options for many cancer types. Observations: Theoretically, the high-energy emission of short-range alpha particles causes complex double-stranded DNA breaks, eliciting cell death. No known resistance mechanism to alpha p
Intermittent fog occurrences supply significant amounts of moisture to plants in the form of fog drip onto the soil surface thereby prompting interest in their statistical behavior at multiple timescales. A comparison of rainfall and fog measurements collected at an inland tropical cloud forest in Kenya and a coastal rangeland in Northern California is presented to explore whether fog occurrences
Coexistence between great tits Parus major and blue tits Cyanistes caeruleus, but also other hole-nesting taxa, constitutes a classic example of species co-occurrence resulting in potential interference and exploitation competition for food and for breeding and roosting sites. However, the spatial and temporal variations in coexistence and its consequences for competition remain poorly understood.
Although conventional computer technology made a huge leap forward in the past decade, a vast number of computational problems remain inaccessible due to their inherently complex nature. One solution to deal with this computational complexity is to highly parallelize computations and to explore new technologies beyond semiconductor computers. Here, we report on initial results leading to a device
Previous in vitro and case–control studies have found an association between the insulin-like growth factor (IGF)-axis and bladder cancer risk. Circulating concentrations of IGF-I have also been found to be associated with an increased risk of several cancer types; however, the relationship between pre-diagnostic circulating IGF-I concentrations and bladder cancer has never been studied prospectiv
Analys av den kulturpolitiska debatt som föregick inrättandet av Bror Hjorths hus i Uppsala 1978. Baseras på mediarapportering, inlägg och uppföljande intervjuer.
A baseflow separation methodology combining the outcomes of the flow–duration curve and the digital filtering algorithms to cope with the restrictions of traditional procedures has been assessed. Using this methodology as well as the monitored and simulated hydro-climatological data, the baseflow annual variations due to climate change and human-induced activities were determined. The outcomes sho
Background. Knowledge on the globally outstanding Amazonian biodiversity and its environmental determinants stems almost exclusively from aboveground organisms, notably plants. In contrast, the environmental factors and habitat preferences that drive diversity patterns for micro-organisms in the ground remain elusive, despite the fact that micro-organisms constitute the overwhelming majority of li
Edoxaban is an oral direct factor Xa inhibitor for prophylaxis and treatment of thromboembolic disorders. The effects on common coagulation assays are clinically valuable information and in certain clinical situations a quick assessment of the anticoagulant is wanted. Our aim was to investigate the effect of edoxaban on routine coagulation methods and evaluate anti-Xa assays, commonly used for oth
Objective: There are few guidelines for clinical trials of interventions for prevention of post-traumatic osteoarthritis (PTOA), reflecting challenges in this area. An international multi-disciplinary expert group including patients was convened to generate points to consider for the design and conduct of interventional studies following acute knee injury. Design: An evidence review on acute knee
Begreppet likhet i porträtt och avbildning, satt i relation till sin varierande historiska kontext.
Randomized clinical trials using human papillomavirus (HPV) DNA testing have found increased protection against cervical cancer and HPV-based screening is globally recommended for women ≥30 years of age. HPV-mRNA is a promising alternative target for cervical screening tests, but assessing equivalence requires longitudinal evaluation over at least the length of a screening interval. Our aim is to
It is difficult to overstate the importance of the concept sovereignty for international relations (IR). And yet, understanding the historical emergence of sovereignty in international relations has long been curtailed by the all-encompassing myth of the Peace of Westphalia. While criticism of this myth has opened space for further historical inquiry in recent years, it has also raised important q
Company cars have received considerable attention because of their partial tax-exemption and the changes in travel behaviour they stimulate, including car model choices, distances driven, and car ownership patterns. This paper is the first to present evidence on actual transport behaviour change, based on mobility and fuel diaries, and comparing a sample of 624 company cars and 9328 private cars i
