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Abstract in Undetermined Kardiovaskulära sjukdomar med debut i yngre åldrar är ofta ärftliga. Molekylärgenetisk diagnostik kan förbättra möjligheten till presymtomatisk diagnostik i drabbade familjer. Förbättrad presymtomatisk diagnostik kan rikta förebyggande sjukvårdsåtgärder mot dem som har högst risk att insjukna, och kan därmed vara kostnadseffektiv.

High spin states in the nucleus Tc-91 have been studied via the fusion evaporation reaction Ni-58(Ar-36,3p)Tc-91, at 149 MeV and 140 MeV beam energy. The OSWS spectrometer, an additional high purity Ge detector at 162 degrees, and several particle detectors were used to measure gamma gamma- and particle-gamma coincidences, directional correlations of oriented states, and line shapes due to Doppler

The title compound, [ RhCl( PBz(3))(2)( CO)] [ PBz(3) = tribenzylphosphine, P(C7H7)(3)], which is the first reported tribenzylphosphine - rhodium( I) structure, has pseudo- square- planar coordination geometry, with Rh - P bond distances of 2.3164 ( 15) and 2.3156 ( 16) Angstrom. The Rh - Cl, Rh - C and C - O bond distances are 2.3654 ( 15), 1.783 ( 6) and 1.162 ( 6) Angstrom, respectively, and th

High spin states in Y-81 UP to the probable 33/2(+) and 29/2(-) yrast states have been measured via the reaction Ni-58(Si-28, alpha p), using the Cologne tandem accelerator. Directional correlations of oriented nuclei were determined and the level scheme was extended with lifetimes measured by means of DSA and recoil distance techniques. Reduced transition strengths inferred from lifetimes were co

The influence of different types of surfactants on ultrafiltration membranes has been investigated. A basic approach to membrane-surfactant interactions is also presented. A nonionic (Triton X-100), two anionic (potassium oleate and sodium dodecylbenzenesulphonate) and a cationic (hexadecyltrimethylammonium bromide) surfactant were investigated. The effects on commercial membranes of polysulphone,

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

Background: The immunosuppressive effects of thiopurine drugs are mainly mediated through their intracellular metabolism into active 6-thioguanine nucleotide (6-TGN) metabolites, which are incorporated into DNA. Erythrocyte 6-TGN (E-6TGN) levels have been proposed as an instrument for monitoring treatment. The aim of the study was to use erythrocyte E-6TGN, methylated mercaptopurine (MeMP) metabol

PURPOSE. To compare intersubject variability and normal limits of threshold values between the new Swedish interactive test algorithm short wavelength automated perimetry (SITA SWAP) and the older Full Threshold SWAP programs (Carl Zeiss Meditec, Dublin, CA). METHODS. Normal reduction of differential tight sensitivity with age, age-corrected thresholds, intersubject variability, and normal limits

Lung tissue from 76 deceased asbestos cement workers (seven with mesothelioma) exposed to chrysotile asbestos and small amounts of amphiboles, has been studied by transmission electron microscopy, together with lung tissue from 96 controls. The exposed workers with mesothelioma had a significantly higher total content of asbestos fibre in the lungs than those without mesothelioma, who in turn, had

A new shifted zeroth-order Hamiltonian is presented, which will be used in second-order multiconfigurational perturbation theory (CASPT2). The new approximation corrects for the systematic error of the original formulation, which led to an relative overestimate of the correlation energy for open shell system, resulting in too small dissociation and excitation energies. Errors in the D, values for

Significance of eco-friendly materials based on easily renewable natural resources, and the finite nature of petrochemical resources, has necessitated the development of polymers from agricultural processing by products such as soy proteins from oil processing. Although, considerable work was done in the early part of last century on polymers based on soy protein, there was almost no activity in t

The nature of Na Is photoabsorption in NaF and NaCl is investigated using the resonant Auger decay of Na Is core excitations. The appearance of new peaks in Auger spectra, when the energy of excitation coincides with the photoabsorption thresholds, shows that the core excitons are created in the threshold region of the Na 1s photoabsorption spectrum. The core excitons around 1074.2 eV originate fr

Objective: To clarify the relationship between symptoms, clinical signs and physiological abnormalities that were motivating the initiation of home mechanical ventilation in patients suffering from neuromuscular diseases. Methods: From The Swedish Home Mechanical Ventilation Register we identified 352 patients with neuromuscular diseases and we looked at circumstances ( acute vs elective) and clin