PURPOSE. To characterize the spectrum of mutations in the OPA1 gene in a large international panel of patients with autosomal dominant optic atrophy (adOA), to improve understanding of the range of functional deficits attributable to sequence variants in this gene, and to assess any genotype-phenotype correlations. METHODS. All 28 coding exons of OPA1, intron-exon splice sites, 273 bp 5' to exon 1

The radiobiological effect of intracellularly localised radionuclides emitting low energy electrons (Auger electrons) has received much attention. Most in vivo studies reported have been performed in the mouse testis. We have investigated the rat testis as an in vivo radiobiological model, with sperm-head survival, testis weight loss and also alteration in the blood plasma hormone levels of FSH an

Popular Abstract in Swedish I denna avhandling studeras korruption och mutor som i första hand sociala och moraliska, snarare än ekonomiska, fenomen. Vilka beskrivningar och tolkningar ger svenska och danska biståndsarbetare av sina möten med vardaglig korruption? Hur fördömes, ursäktas eller rättfärdigas användandet av mutor? Går det att tala om en etikett för mutor, och hur ser denna i så fall uIn this dissertation, corruption and bribery are investigated as social and moral, rather than economic, phenomena. The analysis concentrates on the ways in which Swedish and Danish aid workers describe their experiences of everyday or 'petty' corruption. How do they view their encounters with everyday corruption in developing countries? In what ways are bribes condemned, excused, or justified? Wh

Popular Abstract in Swedish Bakgrund När en kärlskada uppstår är det viktigt att blödningen snabbt kan stoppas. Detta åstadkomms genom att koagulationssystemet bildar en blodpropp vid skadestället. Von Willebrand faktorn (VWF) är ett stort protein som cirkulerar i blodet. Detta protein ingår, tillsammans med blodplättarna, i koagulationssystemets första fas. När ett kärl skadas binder VWF (som seVon Willebrand factor (VWF) is synthesized and secreted by endothelial cells into the plasma as a series of multimers. VWF induces the formation of platelet plugs at sites of vascular injury and high shear stress. Biological activity is dependent on multimeric size, which is regulated in plasma by the VWF-cleaving protease ADAMTS13. Severe ADAMTS13 deficiency is associated with thrombotic thromboc

Dimethylaminopurine (DMAP) has previously been used as an inhibitor of phosphorylation in studies of meiotic events, and more recently to investigate TNFα signaling, because of its potential to inhibit activation of c-jun N-terminal kinase (JNK). Here we have addressed the effects of DMAP on metabolic insulin responses in adipocytes and on intracellular insulin signaling molecules. At 100 μmol/L,

The reactive vascular-injuring amino acid homocysteine was measured in plasma samples from 79 well-characterized type 1 diabetic patients and 46 control subjects. Patients with proliferative retinopathy had higher homocysteine levels (15.0 +/- 6.3 mumols l-1; mean +/- SD, p less than 0.001; n = 42) than those with progressive retinopathy during a two-year period (10.4 +/- 1.6 mumols l-1; n = 12),

Renal cell carcinoma (RCC) is the most prevalent cancer of the kidney. In human RCC cells, we recently showed that insulin-like growth factor I (IGF-I) has growth-promoting effects regulated by IGF-binding protein 3 (IGFBP-3). In this study, the analysis was expanded to include the interaction between the IGF and transforming growth factor-beta (TGF-beta) systems in the human RCC cells Caki-2 (fro

The effect of the non-ionic contrast medium iohexol (Omnipaque) on renal function was investigated in diabetic patients with signs of peripheral ischaemia. Forty-six patients, 70 +/- 11 years (mean +/- SD) old, age at diabetes diagnosis 53 +/- 17 years, and with varying degrees of diabetic nephropathy were studied before 1, 2, and 30 days after aortobifemoral arteriography. Serum creatinine, creat

Culture filtrates of the nematophagous fungi Verticillium chlamydosporium and V. suchlasporium growing on colloidal chitin showed increasing chitinolytic activity and production of two (32- and 43-kDa) main proteins. Maximum activity was found 18-20 days after inoculation, but V. suchlasporium always displayed higher activity. Zymography of such filtrates on carboxymethyl-chitin-Remazol brilliant

High-resolution spectra of the chemically peculiar HgMn stars chi Lupiand HR 7775, obtained with the Hubble Space Telescope/Goddard HighResolution Spectrograph, are investigated for their abundance of bismuthby comparison with LTE synthetic spectrum modeling. HR 7775, previouslyknown from International Ultraviolet Explorer spectra to display stronglines of Bi II, is determined to have bismuth pres

This thesis deals with techniques for the full integration of radio frequency (RF) transmitter with CMOS technology. The theory and implementation of high performance digital-to-analog converters (DACs) for radio frequency (RF) transmitters have been studied. A linear interpolation DAC architecture is proposed. By employing the linear interpolation, the attenuation of DAC's image components is sig

The crystal structure of the phosphide-bridged cluster [Os6(μ-H)(CO)12(NCMe)(μ-PH2)] 4 has been determined. The cluster consists of two Os3 triangles which are linked by a PH2 moiety which is terminally bound to each triangle. The acetonitrile ligand is axially coordinated and the hydride bridges the Os---Os edge to which the phosphide moiety and the acetonitrile are coordinated. The molecular str

Objectives: To identify genetic and non-genetic risk factors for papillary serous uterine cancer. Methods: A case-control study was conducted. Case women with papillary serous uterine cancer were compared with two control groups: 1) women with endometrioid uterine cancer and 2) healthy women with no past history of cancer. Cases and controls were matched for age (within two years) and ethnic group