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A Swedish family with two generations suffering from presenile dementia with an unusually severe Alzheimer encephalopathy was first reported in 1946. The hypothesis that the disease was inherited through a dominant gene is strongly supported by the follow-up 50years later of three additional generations and molecular genetic findings of a novel presenilin-1 gene mutation in the family. The pedigre
This thesis deals with techniques for raising the programming level for a particular kind of computations, namely those on abstract syntax trees. Such computations are central in many program analysis tools, such as compilers, smart language-sensitive editors, and static analysis tools. All techniques presented in this thesis support modular description and efficiency and are capable of handling l
Breast cancer is a rare disease in men, affecting less than 0.1% of the male population. Two heritable gene defects have been associated with a predisposition to male breast cancer development, ie., germ-line mutations in the breast cancer susceptibility gene BRCA2 and the androgen receptor (AR) gene. In this study, the entire coding regions of BRCA2 and AR were screened for mutations in 34 consec
While the use of radio technology for wireless data communications has increased rapidly, the wide variety of radio interfaces being used has made interference investigations hard to perform. With that in mind, we present a novel approach for analyzing packet radio communications, applicable to interfering heterogeneous networks, which leads to tractable analytical expressions. The core of the app
Background: Laser photocoagulation is a well-established treatment for diabetic retinopathy but the mechanism behind its effectiveness has not been elucidated. The protein kinase C (PKC) family is a group of enzymes which has been the subject of extensive interest in clinically related research since the advent of its role in the pathogenesis of diabetic retinopathy. With this study we wanted to e
Background: Even though ovarian tumors are not generally considered estrogen-sensitive, estrogens may still have an impact on ovarian tumor progression. The recently identified trans-membrane estrogen receptor GPER is involved in rapid estrogen signaling. Furthermore, it binds selective estrogen receptor modulators with agonistic effect, which could explain tamoxifen controversies. Methods: GPER m
Distributions sensitive to the underlying event in QCD jet events have been measured with the ATLAS detector at the LHC, based on of proton-proton collision data collected at a centre-of-mass energy of 7 . Charged-particle mean and densities of all-particle and charged-particle multiplicity and have been measured in regions azimuthally transverse to the hardest jet in each event. These are present
The short-term Crabtree effect is defined as the immediate appearance of aerobic alcoholic fermentation upon a pulse of excess sugar to sugar-limited yeast cultures. In this paper we characterized ten different yeast species, having a clearly defined phylogenetic relationship. Yeast species were cultivated under glucose-limited conditions, and upon a glucose pulse we studied their general carbon m
We reconstruct the Holocene range fluctuations of the European pond turtle (Emys orbicularis) for northern and Central Europe. Based on 529 subfossil records and radiocarbon dating of critical finds, we provide evidence that E. orbicularis experienced a rapid range expansion with Holocene warming. Phylogeographic data argue for a colonization of northern and Central Europe from a glacial refuge lo
In view of a rapidly increasing importance in applications, as well as significant fundamental observations, the temperature anomalies displayed by several oxyethylene compounds, including poly(ethylene glycol), and oxyethylene surfactants and copolymers continue to create interest but also controversies. Here we review a wide range of experimental observations and present the different theoretica
Objective. To study lymphocyte markers in rheumatoid arthritis (RA)-associated interstitial pneumonitis (IP) compared with idiopathic IP. Methods. Paraffin-embedded lung biopsy specimens from patients with RA (n = 15) and from those without RA (n = 16), all of whom had a diagnosis of either nonspecific IP or usual IP, were studied. Tissue sections from each patient were reviewed by a pathologist,
This paper is one in a series of experimental studies on the effects of food composition on aging and longevity, using the golden-haired blowfly Calliphora stygia as the animal model Here we examine how diet. fat content affects blowfly life history traits such as longevity, reproduction, feeding rate, body mass, total fat content and membrane fatty acid composition. The highest median and maximum
The urinary excretion of a glucose-containing oligosaccharide, Glc alpha[1-6Glc alpha[1-4Glc alpha[1-4Glc, (Glc4) has been measured in various physiological and pathological conditions. The Glc4 content of 24 h samples from the same individual was relatively constant, whereas 2 h samples showed up to 4-fold variations in Glc4 concentration. This variation is associated mainly with increased excret
Evidence of a dynamic Holocene glacial history is preserved in the terrestrial and marine archives of St. Jonsfjorden, a small fjord-system on the west coast of Spitsbergen, Svalbard. High-resolution, remotely sensed imagery from marine and terrestrial environments was used to construct geomorphological maps that highlight an intricate glacial history of the entire fjord-system. The geomorphology
The aim was to explore health in relation to the home as experienced by very old, single-living Swedish people. Applying a grounded theory approach, 40 men and women aged 80-89 were interviewed in their own homes. Data analysis revealed the main theme, "The home is the hub of health", comprising two categories, "The home as support for health", and "Having an inner driving force to maintain health
Experimental studies of core-excited molecules using three-dimensional multi particle momentum imaging are presented where bond rearrangement processes in dication species are analysed. The aim of the study is to understand the relation between the geometric changes associated with core-excited states and the kinetic energy released in particular molecular dissociation processes. The kinematics of
Background: Psychiatric comorbidity is common in gambling disorder, a condition with low rates of treatment seeking. There is a paucity of documented nationwide data on gambling disorder and its co-occurring psychiatric comorbidities in the health care system. Methods: This is a nationwide register-based study of all patients aged above 18 years who were diagnosed with gambling disorder (correspon
Background and objective: New proposals to improve the regulation of hypnosis in anaesthesia based on the development of advanced control structures emerge continuously. However, a fair study to analyse the real benefits of these structures compared to simpler clinically validated PID-based solutions has not been presented so far. The main objective of this work is to analyse the performance limit
Structural variants (SVs) rearrange large segments of DNA1 and can have profound consequences in evolution and human disease2,3. As national biobanks, disease-association studies, and clinical genetic testing have grown increasingly reliant on genome sequencing, population references such as the Genome Aggregation Database (gnomAD)4 have become integral in the interpretation of single-nucleotide v
