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Träfflista för sökning "WFRF:(Ljung L.) srt2:(1990-1994)"

Sökning: WFRF:(Ljung L.) > (1990-1994)

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1.
  • Kling, S., et al. (författare)
  • Moderate haemophilia B in a female carrier caused by preferential inactivation of the paternal X chromosome
  • 1991
  • Ingår i: European Journal of Haematology. - : Wiley. - 0902-4441 .- 1600-0609. ; 47:4, s. 257-261
  • Tidskriftsartikel (refereegranskat)abstract
    • 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 other factor IX gene inherited from her healthy father is normal as her son is also healthy. This suggests the patient's haemophilia to be due to gross bias in the proportion of factor IX-producing cells with an inactive paternal X chromosome. Methylation studies on the 5' region of the PGK gene show that virtually all the patient's lymphocytes carry a hypermethylated and presumably an inactive paternal X chromosome. The reason for this bias in the activity of her two X chromosomes is not clear, as no chromosomal alterations were found.
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2.
  • Lindgren, A-C, et al. (författare)
  • Normal vaginal delivery is to be recommended for haemophilia carrier gravidae
  • 1994
  • Ingår i: Acta Paediatrica, International Journal of Paediatrics. - : Wiley. - 0803-5253. ; 83:6, s. 609-611
  • Tidskriftsartikel (refereegranskat)abstract
    • 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 carrier the remaining 11 (5 emergency, 6 elective) for other reasons. Neonatal complications were: subgaleal or cephalic haematoma (n = 12), intracranial haemorrhage (n = 4), umbilical bleeding (n = 4), haematuria (n = 1), retro-orbital bleeding (n = 1) and abnormal bleeding after surgery. injection or venepuncture (n = 28). Of the 12 infants with subgaleal/cephalic haematoma, 10 were delivered by vacuum extraction. Seven more infants were delivered by vacuum extraction and another 11 were born without abnormal bleedings after laborious (> 24 h) delivery. Of the 4 children with intracranial haemorrhage, all were sporadic cases of haemophilia, 1 was a premature birth by caesarean section in the 27th week, 1 was delivered by vacuum extraction and the remaining 2 vaginally. In these 4 cases there were no sequelae or only minor ones. We conclude that the risk of serious bleeding in conjunction with normal vaginal delivery is small, but that vacuum extraction should be avoided when delivering offspring of haemophilia carriers.
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