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PURPOSE:: To describe a family with an 18-year-old woman with fundus albipunctatus and compound heterozygous mutations in RPE65 whose unaffected parents and 1 female sibling harbored single heterozygous RPE65 mutations. DESIGN:: Observational study. PARTICIPANTS:: Four family members. METHODS:: Clinical examinations included full-field electroretinogram (ffERG) after standard (30-minute) and prolo
Indoor location-based positioning systems have attracted notable interest during recent years for a wide range of personal and commercial applications. As is well known, the GPS systems does not allow for accurate positioning indoors, resulting in the development of various forms of indoor positioning techniques, mostly being based on radio frequency measurements. In this paper, we examine a novel
INTRODUCTION.: Cyclic adenosine 3'5' monophosphate (cAMP) is produced by adenylate cyclase after activation by, e.g., vasoactive intestinal polypeptide or prostaglandin E1 (PGE1). The cAMP-degrading phosphodiesterase 4 (PDE4) is expressed in the vagina and clitoris, but no information is available on the functional role for PDE4-related signals in the female neurovascular genital response. AIM.: T
Benign fibrous histiocytoma (BFH) is a mesenchymal tumor that most often occurs in the skin (so-called dermatofibroma), but may also appear in soft tissues (so-called deep BFH) and in the skeleton (so-called non-ossifying fibroma). The origin of BFH is unknown, and it has been questioned whether it is a true neoplasm. Chromosome banding, fluorescence in situ hybridization, single nucleotide polymo
Non-alcohol fatty liver disease (NAFLD) is a strong risk factor for insulin resistance and type 2 diabetes. The prevalence of NAFLD varies across populations of different ethnic backgrounds but the prevalence in Middle Eastern populations, which are at high risk of type 2 diabetes, is largely unknown. Using fatty liver index (FLI) as a proxy for NAFLD the aim was to calculate the odds of NAFLD (FL
We consider a model for the Higgs sector with two scalar doublets and a softly broken Z(2) symmetry, the Stealth Doublet Model. This model can be seen as a generalization of the Inert Doublet Model. One of the doublets is the Higgs doublet that participates in electroweak symmetry breaking and couples to fermions. The other doublet does not couple to fermions at tree level and does not acquire a v
BackgroundFertility is impaired in many survivors of childhood cancer following treatment. Preservation of fertility after cancer has become a central survivorship concern. Nevertheless, several doctors, patients, and families do not discuss fertility and recommendations for fertility preservation in pediatrics are still lacking. Recommendations based on scientific evidence are needed and before t
The original version of this consensus statement on mechanical thrombectomy was approved at the European Stroke Organisation (ESO)-Karolinska Stroke Update conference in Stockholm, 16-18 November 2014. The statement has later, during 2015, been updated with new clinical trials data in accordance with a decision made at the conference. Revisions have been made at a face-to-face meeting during the E
Rationale Cooling reduced infarct size and improved neurological outcomes in animal studies modeling ischemic stroke, and also improved outcome in randomized clinical trials in patients with hypoxic-ischemic brain injury after cardiac arrest. Cooling awake patients with ischemic stroke has been shown feasible in phase II clinical trials. Primary aim To determine whether systemic cooling to a targe
The aim of the study was to investigate media presentations of baby boomers as future care users. The Swedish baby boomer generation, born in the 1940s, and known as the '40s generation, has been characterized as youthful and powerful, and a question investigated in the study was whether boomers are supposed to display these characteristics as care users. We analyzed 481 articles in Swedish newspa
Purpose: The purpose of this study was to investigate, using simulations, a method for improved contrast agent (CA) quantification in DCE-MRI. Methods: We developed a maximum likelihood estimator that combines the phase signal in the DCE-MRI image series with an additional CA estimate, e.g. the estimate obtained from magnitude data. A number of simulations were performed to investigate the ability
Germ layer formation and primary axis development rely on Fibroblast growth factors (FGFs). In Xenopus, the secreted serine protease HtrA1 induces mesoderm and posterior trunk/tail structures by facilitating the spread of FGF signals. Here, we show that the serpin Protease nexin-1 (PN1) is transcriptionally activated by FGF signals, suppresses mesoderm and promotes head development in mRNA-injecte
Label-free LC-MS methods are attractive for high-throughput quantitative proteomics, as the sample processing is straightforward and can be scaled to a large number of samples. Label-free methods therefore facilitate biomarker discovery in studies involving dozens of clinical samples. However, despite the increased popularity of label-free workflows, there is a hesitance in the research community
Perinatal factors including high birth weight have been associated with childhood brain tumors in case-control studies. However, the specific contributions of gestational age and fetal growth remain unknown, and these issues have never been examined in large cohort studies with follow-up into adulthood. We conducted a national cohort study of 3,571,574 persons born in Sweden in 1973-2008, followed
This study analyzes (a) the relation between injury severities, the age of the bicyclist and the speed environment at accident locations (mean travel speed of the traffic flow involved in the accident) where a bicyclist was struck by a motorized vehicle and (b) how these relations differ from those for struck pedestrians. Accident data from Sweden for the years 2004-2008 was used to identify accid
Energy relaxation is well-established by several researchers – especially in the field of the modelling of solid-solid phase transformations. Nevertheless, critics still counter this concept by considering it as a purely mathematical tool with poor physical significance. In this contribution we aim at emphasising the significance of energy relaxation methods for the modelling of dissipative solids
Dietary chloroplast thylakoids have previously been found to reduce food intake and body weight in animal models, and to change metabolic profiles in humans in mixed-food meal studies. The aim of this study was to investigate the modulatory effects of thylakoids on glucose metabolism and appetite-regulating hormones during an oral glucose tolerance test in pigs fed a high fat diet.
