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The mutations of 76 haemophilia B patients representing the whole population registered with the Malmö haemophilia centre (42) and referrals from the UK, were characterised. RFLP haplotype analysis of the defective genes indicated that 51 single base pair substitutions were definitely of independent origin and 27 of these were CpG----TpG or CpA transitions. This represents a 38-fold excess over ot

Background: The national incidence of adverse events (AEs) in Swedish orthopedic care has never been described. A new national database has made it possible to describe incidence, nature, preventability and consequences of AEs in Swedish orthopedic care. Methods: We used national data from a structured two-stage record review with a Swedish modification of the Global Trigger Tool. The sample was 4

Rapid identification of gene defects allows definite carrier and prenatal diagnosis in virtually every family with haemophilia B. We report a study of the family of an isolated patient. Analysis of all the essential regions of the patient's factor IX gene (promoter, exons, transcript processing signals) revealed two mutations: one C----T transition at residue 17762 and another at residue 30890. Th

The case of a female with moderate haemophilia B is reported. She is the only affected member of her family, and factor IX RFLP analysis shows her to have inherited no maternal markers for polymorphisms located in the first intron and 8 Kb 3' of the polyadenylation signal (DdeI and HhaI, respectively). This clearly indicates a deletion involving at least the last 7 exons of the factor IX gene. Her

The aim of this study was to ascertain how many of the sporadic cases of severe Haemophilia A in Sweden are due to recent mutation, and establish its origin. DNA analysis was performed in 18 randomly selected families with a sporadic case of severe haemophilia A. Restriction fragment length polymorphism (RFLP) patterns were investigated, two intragenic (Bc1 I, Xba I/Kpn I) and two extragenic (DX 1

The distribution of 1.198 Malmö alleles was examined in 822 men from 16 indigenous populations and 188 women from 7 of the ethnic groups. Subjects were from several European countries, the Mediterranean, East Asia, and the USA (Anglo- and African-Americans). The frequencies of the rarer (Malmö B) allele were approximately equal across Europe, the highest frequencies (0.36) being in the French and

Gene profiling has revealed that malignant gliomas can be divided into four distinct molecular subtypes, where tumors with a mesenchymal gene expression are correlated with short survival. The present investigation was undertaken to clarify whether human malignant gliomas contain endogenous mesenchymal stromal cells (MSC), fulfilling consensus criteria defined by The International Society for Cell

Carrier and prenatal diagnosis based on the identification of the gene defect (direct diagnosis) increases the proportion of haemophilia B families that can be offered precise genetic counselling from the 50-60% attainable by DNA markers, to 100%, and they also provide information on the molecular biology of the disease. We propose that in order to maximize the practical and scientific benefits of

Anaphylaxis/anaphylactoid reactions have recently been reported after few treatments with factor IX concentrates in patients with haemophilia B at the same time as inhibitors to factor IX were demonstrated. In some of these cases nephrotic syndrome has appeared during immune tolerance induction (ITI) with high doses of factor IX concentrates. Gene deletions seem to be associated with a high risk o

Cartier identification and antenatal diagnosis were performed in 2 sisters by electrophoretic separation of the normal and abnormal bands obtained after amplification of a fragment of exon h in the factor IX gene. The mutation in the family had been characterised as an 8-base pair (bp) deletion in exon h. By amplification of a 326 bp fragment containing the site of deletion, the shorter 318 bp ban

With a view to the characterisation of presenting symptoms, a survey was made of 140 boys diagnosed as having haemophilia A or B, severe or moderate form, in Sweden during the years 1960-1987. Mean age at diagnosis was nine months for the severe cases and 22 months for the moderate cases. Although the heredity was known in 59/140 cases, 35 had had bleeding episodes before diagnosis had been establ

A 39‐year‐old patient, suffering from severe haemophilia B and antibodies against factor IX, has twice been treated with extracorporeal protein A‐Sepharose adsorption followed by conventional substitution therapy in combination with immunosuppression (cyclophos‐phamide). On both occasions, separated by a 2‐year interval, the same procedure was followed except that, on the second, administration of

High-spin states in Xe124 have been populated using the Se80(Ca48,4n) reaction at a beam energy of 207 MeV and high-multiplicity, γ-ray coincidence events were measured using the Gammasphere spectrometer. Six high-spin bands with large moments of inertia, similar to those observed in neighboring nuclei, have been observed. The experimental results are compared with calculations within the framewor

A case of Gaucher's disease diagnosed by means of fine needle aspiration of the liver and spleen in a 12-month-old boy with hepatosplenomegaly is presented. The diagnosis was based on the finding of large, macrophagelike cells with abundant, pale, fibrillary cytoplasm and small nuclei. The patient had no family history of Gaucher's disease, and the diagnosis was not suspected clinically.

We have detected the mutations in the factor IX genes from all of the haemopllilia B patients registered at Malmo haemophilia centre (45) and are currently examining the entire UK haemophilia B population. From these studies we have found 13 base substitutions which have recurred in 1-6 other, presumably unrelated, patients. In order to determine the minimum number of independent repeats of each m