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Genotype assessment based on direct identification of the pathogenic mutation in a chorionic villi sample obtained in the 11-12th gestational week is the most reliable method for prenatal diagnosis and should be used if available. Genetic linkage studies of polymorphisms should be the second choice in the assessment of carriers and in prenatal diagnosis. Carriers of haemophilia should be offered a

Undergraduate text in signal analysis and communication, including probability theory and coding theory.

The long-term psychological effects resulting from carrier testing and prenatal diagnosis (PD) of haemophilia were evaluated by comparing mental symptomatology scores (Symptom Check List, SCL-90) for 50 carriers of haemophilia who had undergone PD about five years earlier, 55 carriers who had not undergone PD and 262 control women who were not carriers. All of the women had children. Carrier testi

The aim of the current study was to determine which pregnant carriers of haemophilia are at particularly high risk for having notably negative psychological reactions in association with prenatal diagnosis (PND) by fetal blood sampling of offspring haemophilia. Among 29 carriers of haemophilia A or B, notable psychiatric or psychosomatic symptoms in association with PND were significantly related

Aims: To study the number, outcome and reasons for prenatal diagnosis (PND) and how it has affected the incidence of haemophilia, the number of siblings and the number of potential carriers in the families. Study Group: Women in SWE, compromising over 95% of total, who underwent PND of haemophilia during the years 1970-2010. A total of 46 women were identified who together underwent 79 PND procedu

A text in channel coding, decoding algorithms, and compression of data and speech, designed for both classroom and research use. There is a special emphasis on the algorithms employed in the field.

Background. HIV-infected mothers can transmit their infection to their children in utero or at delivery (vertical transmission). There have been cases of children who were reported as acquiring infection vertically and later clearing the infection. We report the frequency of this phenomenon in a European cohort study. Methods. In four centres of the European Collaborative Study of children born to

The characterization of naturally occurring mutations is one way to approach functionally significant domains of polypeptides. About 10 mutations have been reported in factor XIII (FXIII) A-subunit deficiency, but very little is known about the effects of the mutations on the expression or the structure of this enzyme. In this study, the recent crystallization of FXIII A-subunit and determination

Vertical InAs/GaSb nanowire TFETs with diameters of 20 nm and 25 nm have been fabricated and characterized. The influence of diameter, gate-placement, and nanowire numbers have been studied. The best device shows a subthreshold swing of 68 mV/dec at VDS = 0.3 V and 26 μA/μm at VDS = 0.3 V and VGS = 0.5 V. It achieves a self-gain larger than 100 with high transconductance efficiency.

The objective of this study was to describe the natural history of HIV-1 RNA load in vertically HIV-1-infected children. HIV-1 RNA in 156 plasma or serum samples (1-14, median 4 from each child) from 32 vertically HIV-1-infected children was detected with the NASBA® technique (Organon Teknika, The Netherlands). Twenty-one children were prospectively followed from birth, and 11 were identified and

To summarize, prophylactic treatment of hemophilia begun at an early age has been gaining acceptance as the optimal therapeutic option in an increasing number of hemophilia centers in the developed world in recent years. In all too many parts of the world, however, this option must be viewed as a long-range goal in hemophilia care, since national economic resources are insufficient for regular pro

The actual reproductive choices made by slightly over a quarter of all the carriers of severe or moderate haemophilia in Sweden were investigated and compared with those of a randomly selected age-matched group of women who were not carriers of haemophilia. In general, the 105 carriers had the same number of children as other women of similar age. However, carriers who did not choose prenatal diag

Purpose: We present clinical and laboratory data on 18 children from 12 hemophilia treatment centers in the United States, Canada, and Europe with the purpose of disseminating information regarding a recently recognized, potentially life-threatening complication of treatment in very young children with hemophilia B. Patients and Methods: Twelve hemophilia centers from the United States, Canada, an

Human activities have been marred for ages by conflicts of interest. This is no less true in the field of science. In the early years of the Nobel Prizes, little attention was focused on this aspect, but awareness steadily grew. In particular, this concerned Swedes nominated for Nobel Prizes, who were most likely themselves members of the Royal Swedish Academy of Sciences, but whose fellows at the

The aim of the study was to investigate the feasibility of optimizing prophylactic dosing of factor VIII by the use of individual pharmacokinetic data. Twenty-one patients were enrolled in a randomized cross-over study on standard dosage regimens vs. dosing according to pharmacokinetic principles. The study period was 2 x 6 months. Using single-dose pharmacokinetic data for each patient, plasma fa

We demonstrate an artificial three-dimensional (3D) electrical active human neuronal network system, by the growth of brain neural progenitors in highly porous low density electrospun poly-ε-caprolactone (PCL) fiber scaffolds. In neuroscience research cell-based assays are important experimental instruments for studying neuronal function in health and disease. Traditional cell culture at 2D-surfac