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Thirty-years' experience of prenatal diagnosis of haemophilia in Sweden

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

Source and Channel Coding: An Algorithmic Approach

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.

Detection of virus in vertically exposed HIV-antibody-negative children

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

Four novel mutations in deficiency of coagulation factor XIII: Consequences to expression and structure of the A-subunit

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

InAs/GaSb vertical nanowire TFETs on Si for digital and analogue applications

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.

Long-term pattern of HIV-1 RNA load in perinatally infected children

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

Prophylactic infusion regimens in the management of hemophilia

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

Reproductive choices of haemophilia carriers

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

Factor IX inhibitors and anaphylaxis in hemophilia B

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

Labor pains in the early days of the Nobel Committee for Chemistry

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

Improved cost-effectiveness by pharmacokinetic dosing of factor VIII in prophylactic treatment of haemophilia A

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

Prophylactic treatment in Sweden - Overtreatment or optimal model?

At the haemophilia centre in Malmo, Sweden, regular prophylactic treatment is begun at 1-1 1/4 years of age, before the onset of joint bleeds. The dose and dose interval are optimised by means of pharmacokinetic studies to determine the individual patient's FVIII or IX metabolism, the goal of maintaining a level > 1% of normal being taken as a guideline which experience has shown to yield satisfac

Treatment of children with haemophilia in Europe: A survey of 20 centres in 16 countries

A survey was made of the current status of treatment of haemophilic boys at 20 centres in 16 European countries and includes approximately 1500 of the estimated 6500 haemophiliacs in the participating countries. Many mild haemophiliacs are not seen, or seen infrequently, at haemophilia centres and this requires study. Nine of 18 centres provide continuous prophylaxis to 80-100% of their patients,

Similar bleeding phenotype in young children with haemophilia A or B : A cohort study

The bleeding phenotype has been suggested to differ between haemophilia A and B. More knowledge on the bleeding phenotype at initiation of treatment is important to optimize patient care. The aim of this study was to investigate the severity of the bleeding phenotype and the variation in bleeding in children with severe or moderate haemophilia A and B. Consecutive, previously untreated patients wi

The impact of prenatal diagnosis on the incidence of haemophilia in Sweden

Summary A demographic survey was made of all children (n= 137) born with severe or moderate haemophilia in Sweden during the period 1970‐92. Bn addition, all prenatal diagnoses (n= 86) performing during the period were evaluated. The annual incidence of severe and moderate haemophilia, having remained constant for decades, increased from 0.78/10,000 males in the 1970s to 1.34 in the 1980s, levelli

Ideology, politics and war violence as sources of forced migrations

The symbolic order of discourse of ideology actually enables the existence and reproduction of violence. Mass crimes on civilians may become normalized and widely accepted if perpetrators of violence who exert violence and those who implicitly and explicitly support it believe that exertion of violence on others is justified by belief in some symbolic higher order. Many current examples of justifi