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PURPOSE:: The purpose of this study was to characterize the phenotype of fundus albipunctatus associated with RDH5 mutations. METHODS:: Four unrelated patients (patients 1-4) aged 35, 32, 19, and 8 years were examined with full-field electroretinography, multifocal electroretinography, optical coherence tomography, and fundus autofluorescence photography. Molecular genetic investigations included
Mutations in the breast cancer susceptibility gene 1 (BRCA1) may account for one half of all familial breast cancers. Because of the wide spectrum of different germline mutations, identification of BRCA1 mutation carriers using current techniques is laborious and difficult. The majority of the identified mutations, however, lead to aberrant expression of the gene product in tumor tissue, potential
BACKGROUND AND AIMS: The aims of this study were to investigate (1) if P2Y(12) polymorphisms defining the P2Y(12) H2 allele are associated with any other SNPs that may explain the previously reported association with increased ADP induced platelet activation and association with peripheral arterial disease and coronary artery disease and (2) if such variants are associated with acute myocardial in
Inledning till tema intersektionalitet I inbjudan till detta temanummer skrev den svenska redaktionen att nordisk rättsvetenskaplig forskning under de senaste decennierna allt mer har uppmärksammat olika maktrelationer i förhållande till rätten, men att interaktioner mellan olika maktrelationer inte har analyserats i någon större utsträckning. Däremot har genusvetenskaplig forskning behandlat int
New imaging technologies utilising X rays and radiopharmaceuticals are continuously under development. The benefit of computed tomography (CT) has been so dramatic that there is a tendency to overuse it and not to place enough efforts into optimisation of the technique. It is also now more and more common to combine two imaging techniques into a single investigation, such as PET/CT and SPECT/CT-th
We describe the application of a tunable differential interferometer to the characterization of pulsed gas valves, operating in the low-pressure regime (less than or similar to 100 Torr). The spatial profile of the pressure in the gas jet has been studied for piezoelectric and electromagnetic valves in various experimental conditions, for both Ne and Ar gases. Moreover the time response of the val
Psychometric evaluation of 'The 25-item Sex after MI Knowledge Test' in a Swedish context The patients' sexual life after a myocardial infarction is important for his/her quality of life. In spite of this, many patients are in doubt regarding their sex life after a myocardial infarction (MI) and the sexual information received, and counselling from health care providers has been seen to be insuffi
Context: Age-related reduction of serum testosterone may contribute to the signs and symptoms of aging, but previous studies report conflicting evidence about testosterone levels and male mortality. No large prospective cohort study has determined a possible association between serum estradiol and mortality in men. Objective: The main objective was to examine the association between serum testoste
The problem with increasing test application time for testing core-based system-on-chip (SOC) designs is addressed with test architecture design and test scheduling. The scan-chains at each core are configured into a set of wrapper-chains, which by a core wrapper are connected to the test access mechanism (TAM), and the tests are scheduled in such a way that the test time is minimized. In this pap
The purpose was to study potential age ‐ related changes in the circulatory system via heart rate variability (HRV) by gradually lowering ambient temperature (0.2°C/min) from thermoneutral (32 C°) towards cold (18 C°). ECG was recorded from a young (31 years) and from an older subject (78 years), both males. During the tests, brachium blood pressure (BP) was recorded. During the cooling, BP increa
Duke Charles unedited masonic funeral sermon on the Austrian nobleman Kaunitz-Rittberg from 1787.
Prematurely born children have affected visual functions at school age. Optical coherent tomography (OCT) has shown morphological changes in the retina, suggesting a disturbance in normal retinal development in these children. The aim of this study was to examine retinal function with fullfield electroretinogram (ffERG) in school-aged children born prematurely and compare with children born at ter
