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The series comprised 49 Swedish patients with severe haemophilia G [belonging to 49 families (21 with known and 28 with sporadic haemophilia)l, of whom 12 had developed F.VIII inhibitors. Using Southern blotting, 45% (22/49) were found to have inversions, i.e., intrachromosomal rearrangements of the tip of the X chromosome. Twenty patients had one or the other of the two variants of inversions rec
The nature of the mutation in the factor IX gene is an important factor in determining whether a patient with hemophilia B will develop an inhibitor. In a series of 62 Swedish families with hemophilia B, including 30 with the severe form, approximately one third of the families exhibiting deletions or nonsense mutations contained one member who developed an inhibitor. The risk for inhibitor develo
Every child with severe or moderate haemophilia A or B, born in Sweden during the period 1970-1990, was traced in the national haemophilia register, all 117 case records being surveyed for mode of delivery and perinatal complications. Of the 117 deliveries. 13 were by caesarean section and the remaining 104 vaginal. Of the 13 caesarean sections, 2 were performed because the woman was a haemophilia
Methods for energy and bandwidth efficient coded digital communication, including pulse design, non-orthogonal signaling methods, and the faster than Nyquist signaling method.
Three independent cases of chronic haemolytic anaemia in Sweden have recently been demonstrated to be due to the unstable haemoglobin variant Hb Koln. The patients, all of whom have partially compensated chronic haemolytic anaemia, presented with aggravated haemolysis during acute infections in childhood. In one case, acute B19 parvovirus infection induced an aplastic crisis. The substitutions all
First text in bandwidth-efficient digital coded communication. Introduced the method of continuous phase modulation (CPM) coding, with full treatment of spectrum, minimum distance, trasnmitters and receivers.
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
