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- Arvidsson, J, et al.
(författare)
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The first case of the Sanfilippo type C syndrome in Scandinavia
- 1983
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Ingår i: Acta Paediatrica Scandinavica. - : Wiley. - 0001-656X .- 0803-5253 .- 1651-2227. ; 72:2, s. 313-316
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Tidskriftsartikel (refereegranskat)abstract
- A Swedish patient with typical symptoms of the Sanfilippo Syndrome (Mucopolysaccharidosis III) is described. The early onset of the disease, the presence of hepatomegaly, early dementia and the absence of umbilical bernia are consistent with the subgroup Sanfilippo A. Enzyme studies indicate the diagnosis Sanfilippo C, and thus the patient represents a more severe form of this subgroup than any of the four other patients hitherto described in detail.
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| 5. |
- Faldt, R., et al.
(författare)
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Heat production in different populations of human blood cells exposed to immune complexes in vitro : The importance of the Fc parts of immunoglobulins and the influence of active complement
- 1982
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Ingår i: Immunology. - 0019-2805. ; 46:1, s. 189-198
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Tidskriftsartikel (refereegranskat)abstract
- By use of a batch microcalorimeter of the thermopile type, heat production was measured in isolated populations of human peripheral blood cells exposed to defined immune complexes formed in vitro. It was found that most of the heat production recorded in whole blood after admixture of immune complexes occurs in the granulocytes. Under these conditions small but constantly higher activation values were found in the absence of active complement. It was shown that complexes consisting of antigen and F(ab)2 fragments prepared from the specific antibodies were able to initiate heat production in the cells only in the presence of active complement. These experiments indicate that immune complexes are able to induce increased heat production in the cells either by binding to Fc receptors or by activation of complement through the alternative pathway and subsequent binding of the generated C3b to C3b receptors on the heat-producing cells.
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- Hammar, L, et al.
(författare)
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Lewis phenotype of erythrocytes and Leb-active glycolipid in serum of pregnant women
- 1981
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Ingår i: Vox Sanguinis. - 1423-0410. ; 40:1, s. 27-33
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Tidskriftsartikel (refereegranskat)abstract
- In an attempt to provide an explanation for the previously reported effect of pregnancy on the Lewis phenotype of erythrocytes, the level of Leb-active glycolipid in serum was compared with the reactions of erythrocytes, using samples obtained from 73 nonpregnant women, 74 women at the time of delivery, and 2 women at weekly intervals during their pregnancy. In this Swedish population, the frequency of the Le(a--b-) blood group increased from 11% in nonpregnant women to 36% in women at the time of delivery. Among Le(a--b+) women of all ABO groups, those who were A1 most often became (Leb-) during pregnancy. The change in phenotype occurred as early as the 24th week of gestation; the Leb antigen was again detectable within 6 weeks after delivery. The concentration of Leb glycolipid in serum, as measured by radioimmunoassay, decreased only slightly during pregnancy. The repartition of glycolipids, secondary to the increased ratio of lipoprotein to red cell mass that occurs during pregnancy, may account for the relative lack of Lewis glycolipid on erythrocytes.
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- Holmberg, Lars, et al.
(författare)
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Prenatal diagnosis of hemophilia B by an immunoradiometric assay of factor IX
- 1980
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Ingår i: Blood. - 0006-4971. ; 56:3, s. 397-401
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Tidskriftsartikel (refereegranskat)abstract
- An immunoradiometric assay of factor IX was developed based on homologous antibodies that arose in a hemophilic patient. With this assay, 11 of 12 patients with severe hemophilia B had factor IX antigen levels below 1 U/dl and 6 patients with mild hemophilia B had various levels. Factor IX antigen in 8 fetuses (16th-20th gestational week) aborted for therapeutic reasons ranged from 1.8 to 10.0 U/dl. Six amniotic fluids contained 0.28-1.2 U/dl factor IX antigen. Using the immunoradiometric assay, we could diagnose hemophilia B prenatally in one fetus at risk. No factor IX antigen (< 0.2 U/dl) was detectable in the fetoscopic sample. After termination of the pregnancy, analysis of blood from the abortus confirmed the diagnosis of severe hemophilia B. We conclude that very sensitive immunologic assays, such as the one described here, will prove useful in prenatal diagnosis of severe hemophilia B, since determination of factor IX activity in fetoscopic samples is unrealiable because of possible contamination with thromboplastic material.
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- Ljung, R, et al.
(författare)
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Genetic variants of haemophilia B detected by immunoradiometric assay : implications for prenatal diagnosis
- 1982
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Ingår i: Pediatric Research. - : Springer Science and Business Media LLC. - 0031-3998 .- 1530-0447. ; 16:3, s. 8-256
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Tidskriftsartikel (refereegranskat)abstract
- Fifty patients with haemophilia B, belonging to 29 kindreds, were investigated with a highly sensitive immunoradiometric assay based on a homologous antibody to factor IX. The assay measures factor IX antigen (f.IX:Ag) in plasma down to 0.025 U/dl. Seventeen of 18 investigated patients with severe haemophilia B had very little or no f.IX:Ag. Also four of nine patients with moderately severe disease had very low antigen levels, approximately equal to their factor IX clotting activity (f.IX:C), whereas the other 5 had antigen in excess of activity. Of the 23 investigated patients with mild haemophilia B, 20 had f.IX:Ag approximately equal to f.IX:C, whereas 3 had normal amounts of antigen. One family with mild disease was found to have a possible variant of haemophilia B Leyden, earlier described in a few families with moderately severe disease. No haemophilia BM variants, characterized by prolonged prothrombin time with bovine brain thromboplastin, were found. We have shown earlier that the immunoradiometric assay of f.IX was useful in the prenatal evaluation of one fetus at risk for haemophilia B. The present study shows that the assay can be applied for prenatal diagnostic purposes in the vast majority of carriers of severe haemophilia B and in about half of the carriers of moderately severe disease.
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- Ljung, R, et al.
(författare)
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Haemophilia A and B--two years experience of genetic counselling and prenatal diagnosis
- 1982
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Ingår i: Clinical Genetics. - : Wiley. - 0009-9163 .- 1399-0004. ; 22:2, s. 70-75
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Tidskriftsartikel (refereegranskat)abstract
- Haemophilia A. Thirty-one pregnant women, obligate or probable carriers of haemophilia A, requested prenatal diagnosis if sex determination showed the foetus to be a male. In 11 of the 31 cases the foetuses were females; in two, the genetic variant of the disease rendered prenatal diagnosis impossible; and in two, the mother aborted spontaneously. From the remaining 16 male foetuses, blood samples were obtained in utero in the 17th to 20th week of gestation. Examination of the samples showed that 11 of the foetuses were unaffected and five affected. Haemophilia B. Three carriers of haemophilia B had male foetuses. Examination of foetal blood obtained in utero showed that these three foetuses were affected. Confirmation. All women with an affected foetus requested termination of pregnancy. In one of the cases of abortion, no blood was obtained for confirmative examination. In the remaining cases, the prenatal prediction was confirmed in the abortus or in the child after birth; three women are still pregnant.
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